{"id":2998,"date":"2023-11-29T10:33:27","date_gmt":"2023-11-29T03:33:27","guid":{"rendered":"https:\/\/ykhoataynguyen.com\/site\/?p=2998"},"modified":"2023-11-29T10:33:27","modified_gmt":"2023-11-29T03:33:27","slug":"de-cuong-di-truyen-y-hoc","status":"publish","type":"post","link":"https:\/\/ykhoataynguyen.com\/site\/de-cuong-di-truyen-y-hoc\/","title":{"rendered":"\u0110\u1ec0 C\u01af\u01a0NG DI TRUY\u1ec0N Y H\u1eccC"},"content":{"rendered":"

\u0110\u1ec0 C\u01af\u01a0NG DI TRUY\u1ec0N Y H\u1eccC<\/b><\/p>\n

C\u00e2u 1<\/b>: <\/span>So s\u00e1nh \u0111\u1eb7c \u0111i\u1ec3m c\u1ee7a qu\u00e1 tr\u00ecnh sao ch\u00e9p DNA, phi\u00ean m\u00e3 v\u00e0 d\u1ecbch m\u00e3 \u1edf Prokaryote v\u00e0 Eukaryote.<\/b><\/p>\n

A, Qu\u00e1 tr\u00ecnh sao ch\u00e9p DNA.<\/b><\/p>\n

* <\/span><\/i>Gi\u1ed1ng nhau:<\/span><\/p>\n

– \u0110\u1ec1u d\u1ef1a tr\u00ean khu\u00f4n m\u1eabu c\u1ee7a ADN m\u1eb9.<\/span><\/p>\n

– T\u00ednh ch\u1ea5t to\u00e0n c\u1ee5c: to\u00e0n b\u1ed9 ph\u00e2n t\u1eed DNA \u0111\u01b0\u1ee3c sao ch\u00e9p<\/span><\/p>\n

– Theo nguy\u00ean t\u1eafc b\u00e1n b\u1ea3o to\u00e0n v\u00e0 b\u1ed5 sung.<\/span><\/p>\n

– Vi\u1ec7c \u0111\u1ecdc sai \u0111\u01b0\u1ee3c lo\u1ea1i b\u1ecf b\u1edfi ho\u1ea1t t\u00ednh exonuclease 3\u2019-5\u2019 c\u1ee7a DNA polymerase trong qu\u00e1 tr\u00ecnh sao ch\u00e9p.<\/span><\/p>\n

– Nguy\u00ean li\u1ec7u cho t\u1ed5ng h\u1ee3p l\u00e0 4 lo\u1ea1i base nito A, T, G, C \u1edf d\u1ea1ng ho\u1ea1t h\u00f3a.<\/span><\/p>\n

– C\u1ea7n c\u00e1c enzim \u0111\u1ec3 th\u00e1o xo\u1eafn, t\u00e1ch 2 m\u1ea1ch \u0111\u01a1n, l\u1eafp r\u00e1p c\u00e1c nucleotide<\/span><\/p>\n

– Trong 1 ch\u1ea1c ba sao ch\u00e9p: 1 m\u1ea1ch c\u00f3 chi\u1ec1u 3\u2019-5\u2019 \u0111\u01b0\u1ee3c t\u1ed5ng h\u1ee3p li\u00ean t\u1ee5c. m\u1ea1ch c\u00f3 chi\u1ec1u 5\u2019-3\u2019 \u0111\u01b0\u1ee3c t\u1ed5ng h\u1ee3p gi\u00e1n \u0111o\u1ea1n.<\/span><\/p>\n

– C\u00e1c giai \u0111o\u1ea1n c\u01a1 b\u1ea3n:<\/span><\/p>\n

+ Th\u00e1o chu\u1ed7i xo\u1eafn k\u00e9p v\u00e0 t\u00e1ch s\u1ee3i DNA.<\/span><\/p>\n

+ T\u1ea1o \u0111o\u1ea1n m\u1ed3i tr\u00ean s\u1ee3i m\u1eabu.<\/span><\/p>\n

+ L\u1eafp r\u1eafp \u0111o\u1ea1n DNA m\u1edbi.<\/span><\/p>\n

– K\u1ebft qu\u1ea3:<\/span> T\u1ea1o ra hai ph\u00e2n t\u1eed DNA con g\u1ea7n nh\u01b0 gi\u1ed1ng nhau ho\u00e0n to\u00e0n, gi\u1ed1ng v\u1edbi DNA m\u1eb9 v\u00e0 ch\u1ec9 sai kh\u00e1c v\u1edbi t\u1ea7n s\u1ed1 r\u1ea5t th\u1ea5p.<\/span><\/p>\n

* <\/span>Kh\u00e1c nhau<\/span>:<\/span><\/i> Chia ra c\u00e1c ti\u00eau ch\u00ed c\u1ee5 th\u1ec3 v\u00e0 n\u1ed9i dung so s\u00e1nh c\u00f9ng c\u1ea5p \u0111\u1ed9<\/span><\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n\n
Ti\u00eau ch\u00ed<\/b><\/td>\nEukatyote<\/b><\/td>\nProkaryote<\/b><\/td>\n<\/tr>\n
1. V\u1ecb tr\u00ed di\u1ec5n ra<\/span><\/td>\nDi\u1ec5n ra trong nh\u00e2n v\u00e0 ngo\u00e0i nh\u00e2n (DNA ty th\u1ec3).<\/span><\/td>\nDi\u1ec5n ra \u1edf v\u00f9ng nh\u00e2n<\/span><\/td>\n<\/tr>\n
2. S\u1ed1 l\u01b0\u1ee3ng con m\u1eaft sao ch\u00e9p<\/span><\/td>\nC\u00f3 nhi\u1ec1u m\u1eaft sao ch\u00e9p<\/span><\/td>\nCh\u1ec9 c\u00f3 1 m\u1eaft sao ch\u00e9p<\/span><\/td>\n<\/tr>\n
3. S\u1ef1 th\u1ea5t tho\u00e1t v\u1eadt li\u1ec7u di truy\u1ec1n<\/span><\/td>\nC\u00f3 (Qua m\u1ed7i l\u1ea7n nh\u00e2n \u0111\u00f4i, v\u00f9ng \u0111\u1ea7u m\u00fat b\u1ecb ng\u1eafn l\u1ea1i)<\/span><\/td>\nKh\u00f4ng (Kh\u00f4ng c\u00f3 hi\u1ec7n t\u01b0\u1ee3ng ng\u1eafn l\u1ea1i c\u1ee7a v\u00f9ng \u0111\u1ea7u m\u00fat)<\/span><\/td>\n<\/tr>\n
4. T\u1ed1c \u0111\u1ed9 sao ch\u00e9p<\/span><\/td>\nKho\u1ea3ng<\/span><\/p>\n

50 Nucleotit\/ gi\u00e2y<\/span><\/td>\n

Kho\u1ea3ng<\/span><\/p>\n

1500 nucleotit\/ gi\u00e2y<\/span><\/td>\n<\/tr>\n

5. K\u00edch th\u01b0\u1edbc \u0111o\u1ea1n Okazaki<\/span><\/td>\nD\u00e0i h\u01a1n t\u1ebf b\u00e0o nh\u00e2n s\u01a1<\/span><\/td>\n1000 \u2013 2000 c\u1eb7p Nucleotit<\/span><\/td>\n<\/tr>\n
6. S\u1ed1 l\u1ea7n sao ch\u00e9p trong 1 t\u1ebf b\u00e0o<\/span><\/td>\nNhi\u1ec1u l\u1ea7n<\/span><\/td>\n1 l\u1ea7n<\/span><\/td>\n<\/tr>\n
7. T\u1ed5ng th\u1eddi gian qu\u00e1 tr\u00ecnh SC<\/span><\/td>\nD\u00e0i (do k\u1ef3 trung gian d\u00e0i)<\/span><\/td>\nNg\u1eafn<\/span><\/td>\n<\/tr>\n
8. Enzyme sao ch\u00e9p ch\u00ednh c\u00e1c m\u1ea1ch khu\u00f4n<\/span><\/td>\nEnzyme DNA polymerase III<\/span><\/td>\nBa enzyme polymerase c\u1ee5 th\u1ec3 l\u00e0 DNA polymerase I, DNA polymerase II v\u00e0 DNA polymerase III.<\/span><\/td>\n<\/tr>\n
9. Enzyme t\u1ed5ng h\u1ee3p m\u1ed3i<\/span><\/td>\nEnzym DNA poly <\/span>– primase<\/span><\/td>\nEnzym DNA primase<\/span><\/td>\n<\/tr>\n
10. Th\u00e0nh ph\u1ea7n c\u1ea5u tr\u00fac c\u1ee7a m\u1ed3i<\/span><\/td>\nDNA polymerase <\/span>\u03b1<\/span> li\u00ean k\u1ebft ch\u1eb7t ch\u1ebd v\u1edbi primase t\u1ea1o th\u00e0nh ph\u1ee9c h\u1ee3p tr\u00ean.<\/span><\/td>\nL\u00e0 s\u1ee3i RNA ng\u1eafn \u0111\u01b0\u1ee3c t\u1ea1o b\u1edfi RNA polymerase<\/span><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

B, Qu\u00e1 tr\u00ecnh phi\u00ean m\u00e3.<\/b><\/p>\n

* <\/span><\/i>Gi\u1ed1ng nhau<\/span>:<\/span><\/i><\/p>\n

– L\u00e0 s\u1ef1 t\u1ed5ng h\u1ee3p ph\u00e2n t\u1eed RNA t\u1eeb khu\u00f4n DNA.<\/span><\/p>\n

– T\u00ednh ch\u1ea5t c\u1ee5c b\u1ed9: Ch\u1ec9 nh\u1eefng v\u00f9ng gene c\u1ea7n thi\u1ebft m\u1edbi \u0111\u01b0\u1ee3c phi\u00ean m\u00e3<\/span><\/p>\n

– M\u1ed9t \u0111\u01a1n v\u1ecb phi\u00ean m\u00e3 g\u1ed3m promoter, v\u00f9ng m\u00e3 h\u00f3a RNA, v\u00e0 y\u1ebfu t\u1ed1 k\u1ebft th\u00fac<\/span><\/p>\n

– Ribonucleotide tham gia: A, U, G, C \u0111\u01b0\u1ee3c ho\u1ea1t h\u00f3a<\/span><\/p>\n

– Ch\u1ec9 d\u00f9ng 1 m\u1ea1ch c\u1ee7a DNA l\u00e0m khu\u00f4n<\/span><\/p>\n

– 3 giai \u0111o\u1ea1n: kh\u1edfi s\u1ef1, k\u00e9o d\u00e0i chu\u1ed7i, k\u1ebft th\u00fac<\/span><\/p>\n

– S\u1ee3i RNA k\u00e9o d\u00e0i theo chi\u1ec1u 5\u2019-3\u2019 di\u1ec5n ra theo nguy\u00ean t\u1eafc b\u1ed5 sung<\/span><\/p>\n

* <\/span><\/i>Kh\u00e1c nhau<\/span>: <\/span><\/i>T\u01b0\u01a1ng t\u1ef1 sao ch\u00e9p, n\u00ean chia th\u00e0nh c\u00e1c ti\u00eau ch\u00ed c\u1ee5 th\u1ec3. M\u1ed9t s\u1ed1 ti\u00eau ch\u00ed g\u1ee3i \u00fd: V\u1ecb tr\u00ed di\u1ec5n ra, s\u1ed1 lo\u1ea1i enzyme phi\u00ean m\u00e3 ch\u00ednh, S\u1eed d\u1ee5ng RNA sau phi\u00ean m\u00e3, S\u1ed1 l\u01b0\u1ee3ng RNA pol tham gia phi\u00ean m\u00e3, K\u00edch th\u01b0\u1edbc promoter t\u1ed5ng th\u1ec3, Y\u1ebfu t\u1ed1 nh\u1eadn di\u1ec7n v\u00f9ng promoter l\u00f5i, Th\u1eddi \u0111i\u1ec3m RNA pol g\u1eafn v\u00e0o promoter l\u00f5i \u0111\u1ec3 kh\u1edfi s\u1ef1 phi\u00ean m\u00e3, C\u01a1 ch\u1ebf k\u1ebft th\u00fac phi\u00ean m\u00e3, S\u1ef1 ph\u00e2n t\u00e1ch v\u1ec1 m\u1eb7t kh\u00f4ng gian v\u00e0 th\u1eddi gian c\u1ee7a d\u1ecbch m\u00e3 v\u1edbi phi\u00ean m\u00e3, Th\u00f4ng tin v\u1ec1 gene ch\u1ee9a trong 1 ph\u00e2n t\u1eed mRNA, Th\u1eddi gian s\u1ed1ng c\u1ee7a mRNA,\u2026<\/span><\/p>\n\n\n\n\n
Eukaryote<\/b><\/td>\nProkaryote<\/b><\/td>\n<\/tr>\n
\n
    \n
  • Di\u1ec5n ra trong nh\u00e2n<\/span><\/li>\n
  • 3 lo\u1ea1i enzim RNA polymerase (I,II,III)<\/span><\/li>\n
  • RNA t\u1ea1o ra \u0111\u01b0\u1ee3c c\u1eaft intron, n\u1ed1i exon.<\/span><\/li>\n
  • Nhi\u1ec1u t\u00edn hi\u1ec7u kh\u1edfi \u0111\u1ea7u phi\u00ean m\u00e3<\/span><\/li>\n
  • Kh\u00f4ng c\u00f3 s\u1ef1 k\u1ebft h\u1ee3p phi\u00ean m\u00e3 v\u00e0 d\u1ecbch m\u00e3<\/span><\/li>\n<\/ul>\n<\/td>\n
\n
    \n
  • Di\u1ec5n ra trong v\u00f9ng nh\u00e2n<\/span><\/li>\n
  • 1 lo\u1ea1i enzim RNA polymerase (II)<\/span><\/li>\n
  • RNA t\u1ea1o ra \u0111\u01b0\u1ee3c tr\u1ef1c ti\u1ebfp s\u1eed d\u1ee5ng<\/span><\/li>\n
  • \u00cdt t\u00edn hi\u1ec7u kh\u1edfi \u0111\u1ea7u phi\u00ean m\u00e3<\/span><\/li>\n
  • C\u00f3 s\u1ef1 k\u1ebft h\u1ee3p phi\u00ean m\u00e3 v\u00e0 d\u1ecbch m\u00e3<\/span><\/li>\n<\/ul>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

    C, qu\u00e1 tr\u00ecnh d\u1ecbch m\u00e3.<\/b><\/p>\n

    * <\/span><\/i>Gi\u1ed1ng nhau<\/span>:<\/span><\/i><\/p>\n

    – V\u1ecb tr\u00ed trong t\u1ebf b\u00e0o: TBC<\/span><\/p>\n

    – Th\u00e0nh ph\u1ea7n tham gia: ribosome, tRNA, amino acid \u0111\u00e3 \u0111\u01b0\u1ee3c ho\u1ea1t h\u00f3a<\/span><\/p>\n

    – S\u1ea3n ph\u1ea9m l\u00e0 chu\u1ed5i polypeptide sau \u0111\u00f3 \u0111\u01b0\u1ee3c ho\u00e0n thi\u1ec7n th\u00e0nh protein<\/span><\/p>\n

    – C\u00e1c giai \u0111o\u1ea1n c\u01a1 b\u1ea3n:<\/span><\/p>\n

    – Tr\u00ecnh t\u1ef1 c\u00e1c b\u01b0\u1edbc \u0111\u01b0a amino acid v\u00e0o chu\u1ed7i polypeptide<\/span><\/p>\n

    * <\/span><\/i>Kh\u00e1c nhau<\/span>:<\/span><\/i>K\u00edch th\u01b0\u1edbc ribosome, S\u1ef1 ph\u00e2n t\u00e1ch v\u1ec1 m\u1eb7t kh\u00f4ng gian v\u00e0 th\u1eddi gian c\u1ee7a d\u1ecbch m\u00e3 v\u1edbi phi\u00ean m\u00e3, T\u00ednh \u1ed5n \u0111\u1ecbnh c\u1ee7a RNA , V\u1ecb tr\u00ed b\u00e1m c\u1ee7a ribosome \u0111\u00e3 ho\u00e0n ch\u1ec9nh (70S-b\u00e0o ch\u1ea5t; 80S-ER-L\u01b0\u1edbi n\u1ed9i ch\u1ea5t h\u1ea1t), Th\u1eddi \u0111i\u1ec3m di\u1ec5n ra trong chu k\u1ef3 t\u1ebf b\u00e0o, Vai tr\u00f2 c\u1ee7a cap trong kh\u1edfi s\u1ef1 d\u1ecbch m\u00e3 (pro: kh\u00f4ng ph\u1ee5 thu\u1ed9c \u2013 tr\u00ecnh t\u1ef1 SD; euk: ph\u1ee5 thu\u1ed9c-kh\u00f4ng c\u00f3 tr\u00ecnh t\u1ef1 Kozak ho\u1eb7c kh\u00f4ng ph\u1ee5 thu\u1ed9c-c\u00f3 tr\u00ecnh t\u1ef1 Kozak), Qu\u00e1 tr\u00ecnh di\u1ec5n ra nhanh \u1edf prok v\u00e0 ch\u1eadm h\u01a1n \u1edf euk.<\/span><\/p>\n\n\n\n\n
    Eukaryote<\/b><\/td>\nProkaryote<\/b><\/td>\n<\/tr>\n
    \n
      \n
    • Ribosome 80S (60S+40S)<\/span><\/li>\n
    • A.a m\u1edf \u0111\u1ea7u l\u00e0 methyonine<\/span><\/li>\n
    • Phi\u00ean m\u00e3 di\u1ec5n ra trong nh\u00e2n tr\u01b0\u1edbc, sau \u0111\u00f3 d\u1ecbch m\u00e3 di\u1ec5n ra trong t\u1ebf b\u00e0o ch\u1ea5t<\/span><\/li>\n
    • Nh\u00e2n t\u1ed1 kh\u1edfi \u0111\u1ed9ng eIF1, eIF2, eIF3, eIF4(A,B,C,D), eIF5, eIF6<\/span><\/li>\n<\/ul>\n<\/td>\n
    		\n
      \n
    • Ribosome 70S (50S+30S)<\/span><\/li>\n
    • A.a m\u1edf \u0111\u1ea7u l\u00e0 formyl methyonine<\/span><\/li>\n
    • Phi\u00ean m\u00e3 v\u00e0 d\u1ecbch m\u00e3 di\u1ec5n ra c\u00f9ng l\u00fac\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0<\/span><\/li>\n<\/ul>\n
        \n
      • Nh\u00e2n t\u1ed1 kh\u1edfi \u0111\u1ed9ng IF1, IF2, IF3\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0<\/span><\/li>\n<\/ul>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

         <\/p>\n

        C\u00e2u 2<\/b>: <\/span>C\u00e1c \u0111i\u1ec1u ki\u1ec7n c\u1ea7n c\u00f3 \u0111\u1ec3 \u0111\u1ea3m b\u1ea3o th\u00e0nh c\u00f4ng trong vi\u1ec7c truy\u1ec1n \u0111\u1ea1t th\u00f4ng tin di truy\u1ec1n t\u1eeb th\u1ebf h\u1ec7 t\u1ebf b\u00e0o n\u00e0y sang th\u1ebf h\u1ec7 t\u1ebf b\u00e0o kh\u00e1c \u1edf Eukaryote?<\/b><\/p>\n

          \n
        • Nh\u00e2n \u0111\u00f4i v\u1eadt li\u1ec7u di truy\u1ec1n: trong nh\u00e2n \u0111\u00f4i, s\u1ea3n ph\u1ea9m t\u1ea1o th\u00e0nh l\u00e0 2 NST m\u1edbi gi\u1ed1ng nhau v\u00e0 gi\u1ed1ng NST ban \u0111\u1ea7u (theo nguy\u00ean t\u1eafc b\u1ed5 sung v\u00e0 b\u00e1n b\u1ea3o t\u1ed3n)<\/span><\/li>\n<\/ul>\n

          + M\u1ee5c \u0111\u00edch c\u1ee7a nh\u00e2n \u0111\u00f4i: Nh\u1edd c\u00f3 s\u1ef1 t\u00e1i b\u1ea3n DNA m\u00e0 khi 1 t\u1ebf b\u00e0o ph\u00e2n chia t\u1ea1o ra 2 t\u1ebf b\u00e0o m\u1edbi, v\u1eadt ch\u1ea5t di truy\u1ec1n \u0111\u00e3 \u0111\u01b0\u1ee3c truy\u1ec1n t\u1ea3i t\u1eeb t\u1ebf b\u00e0o m\u1eb9 sang t\u1ebf b\u00e0o con, t\u1eeb \u0111\u00f3 th\u00f4ng tin di truy\u1ec1n DNA \u0111\u01b0\u1ee3c b\u1ea3o l\u01b0u v\u00e0 truy\u1ec1n \u0111\u1ea1t qua c\u00e1c th\u1ebf h\u1ec7.<\/span><\/p>\n

          + Th\u1eddi \u0111i\u1ec3m di\u1ec5n ra qu\u00e1 tr\u00ecnh nh\u00e2n \u0111\u00f4i: X\u1ea3y\u00a0ra\u00a0pha S c\u1ee7a chu k\u1ef3 trung gian c\u1ee7a chu k\u00ec t\u1ebf b\u00e0o ho\u1eb7c ngo\u00e0i t\u1ebf b\u00e0o ch\u1ea5t \u0111\u1ec3 chu\u1ea9n b\u1ecb cho ph\u00e2n chia t\u1ebf b\u00e0o.<\/span><\/p>\n

          + K\u1ebft qu\u1ea3 qu\u00e1 tr\u00ecnh nh\u00e2n \u0111\u00f4i<\/span><\/p>\n

          \u00a0V\u1ec1 m\u1eb7t ph\u00e2n t\u1eed, t\u1ea1o ra 2 ph\u00e2n t\u1eed DNA con gi\u1ed1ng nhau v\u00e0 gi\u1ed1ng h\u1ec7t DNA m\u1eb9 ban \u0111\u1ea7u, ch\u1ec9 sai kh\u00e1c m\u1ed9t ph\u1ea7n r\u1ea5t nh\u1ecf.<\/span><\/p>\n

          V\u1ec1 m\u1eb7t t\u1ebf b\u00e0o,\u00a0 t\u1eeb 1 t\u1ebf b\u00e0o m\u1eb9 t\u1ea1o r\u1ea1 2 t\u1ebf b\u00e0o con<\/span>.<\/span><\/p>\n

          – Ph\u00e2n chia v\u1eadt li\u1ec7u di truy\u1ec1n: \u1ede k\u1ef3 gi\u1eefa, c\u00e1c NST \u1edf tr\u1ea1ng th\u00e1i k\u00e9p \u0111\u01b0\u1ee3c x\u1ebfp th\u00e0nh 1 h\u00e0ng t\u1ea1i m\u1eb7t ph\u1eb3ng x\u00edch \u0111\u1ea1o, sau \u0111\u00f3 c\u00e1c NST ch\u1ecb em t\u00e1ch nhau ra v\u00e0 \u0111\u01b0\u1ee3c ph\u00e2n chia \u0111\u1ed3ng \u0111\u1ec1u v\u1ec1 2 c\u1ef1c c\u1ee7a t\u1ebf b\u00e0o.<\/span><\/p>\n

          – Ph\u00e2n chia b\u00e0o ch\u1ea5t: h\u00ecnh th\u00e0nh \u00e9o th\u1eaft (v\u00e1ch ng\u0103n \u1edf th\u1ef1c v\u1eadt) chia t\u1ebf b\u00e0o ban \u0111\u1ea7u l\u00e0m 2 t\u1ebf b\u00e0o m\u1edbi.<\/span><\/p>\n

          C\u00e2u 3<\/b>: <\/span>C\u00e1c ph\u01b0\u01a1ng ph\u00e1p: ph\u00e2n t\u00edch gia h\u1ec7, nghi\u00ean c\u1ee9u tr\u1ebb \u0111\u1ed3ng sinh, ph\u00e2n t\u00edch n\u1ebfp v\u00e2n da, x\u00e9t nghi\u1ec7m b\u1eadt th\u1ec3 barr?\u00a0<\/b><\/p>\n

          A, Ph\u00e2n t\u00edch gia h\u1ec7<\/b><\/p>\n

          \u00a0* <\/b>Kh\u00e1i ni\u1ec7m<\/span>: l\u00e0 ph\u01b0\u01a1ng ph\u00e1p d\u00f9ng ng\u00f4n ng\u1eef k\u00ed hi\u1ec7u \u0111\u1ec3 bi\u1ec3u th\u1ecb s\u1ef1 di truy\u1ec1n c\u1ee7a m\u1ed9t t\u00ednh tr\u1ea1ng n\u00e0o \u0111\u00f3 b\u1eb1ng c\u00e1ch theo d\u00f5i t\u00ednh tr\u1ea1ng \u0111\u00f3 qua m\u1ed9t s\u1ed1 \u0111\u1eddi.<\/span><\/p>\n

          \u00a0* <\/span>Tr\u00ecnh t\u1ef1 th\u1ef1c hi\u00ean<\/span>:<\/span><\/p>\n

          – \u0110i\u1ec1u tra: Th\u00f4ng qua \u0111\u01b0\u01a1ng s\u1ef1, t\u00ecm hi\u1ec1u d\u1ea7n d\u1ea7n v\u1ec1 c\u00e1c th\u00e0nh vi\u00ean kh\u00e1c trong ph\u1ea3 h\u1ec7 (v\u1ec1 b\u1ec7nh t\u1eadt v\u00e0 tri\u1ec7u ch\u1ee9ng) <\/span>\ud83e\udc6a<\/span> Th\u0103m kh\u00e1m l\u00e2m s\u00e0ng<\/span><\/p>\n

          – L\u1eadp ph\u1ea3 h\u1ec7: <\/span><\/p>\n

          \u00a0\u00a0\u00a0\u00a0+ S\u1eed d\u1ee5ng k\u00fd hi\u1ec7u theo quy \u01b0\u1edbc qu\u1ed1c t\u1ebf<\/span><\/p>\n

          \u00a0\u00a0\u00a0\u00a0+ B\u1ea3n \u0111\u1ed3 ph\u1ea3 h\u1ec7 v\u1ebd theo h\u00ecnh b\u1eadc thang, t\u1eeb tr\u00ean xu\u1ed1ng theo c\u00e1c th\u1ebf h\u1ec7 t\u1eeb \u00f4ng b\u00e0, b\u1ed1 m\u1eb9\u2026<\/span><\/p>\n

          \u00a0\u00a0\u00a0\u00a0+ M\u1ed7i th\u1ebf h\u1ec7 l\u00e0 m\u1ed9t b\u1eadc thang, c\u00e1c con c\u1ee7a c\u1eb7p b\u1ed1 m\u1eb9 \u0111\u01b0\u1ee3c ghi t\u1eeb tr\u00e1i sang ph\u1ea3i, t\u1eeb con c\u1ea3 \u0111\u1ebfn con \u00fat.\u00a0<\/span><\/p>\n

          \u00a0\u00a0\u00a0\u00a0+ \u0110\u00e1nh s\u1ed1 la m\u00e3 cho t\u1eebng th\u1ebf h\u1ec7 t\u1eeb tr\u00ean xu\u1ed1ng v\u00e0 s\u1ed1 th\u1ee9 t\u1ef1 cho t\u1eebng c\u00e1 nh\u00e2n \u1edf c\u00f9ng 1 b\u1eadc thang t\u1eeb tr\u00e1i qua<\/span><\/p>\n

          – Ph\u00e2n t\u00edch ph\u1ea3 h\u1ec7:<\/span><\/p>\n

          \u00a0\u00a0\u00a0+ X\u00e1c \u0111\u1ecbnh quy lu\u1eadt di truy\u1ec1n\u00a0<\/span><\/p>\n

          -Ki\u1ec3m ch\u1ee9ng: c\u00e1c PP ph\u00e2n t\u1eed n\u1ebfu c\u1ea7n thi\u1ebft ph\u1ea3i ki\u1ec3m tra s\u1ef1 c\u00f3 m\u1eb7t c\u1ee7a ng\u01b0\u1eddi d\u1ecb h\u1ee3p t\u1eed,\u2026<\/span><\/p>\n

          -K\u1ebft lu\u1eadn<\/span><\/p>\n

          -T\u01b0 v\u1ea5n di truy\u1ec1n<\/span><\/p>\n

          \u00a0* <\/span>\u00dd ngh\u0129a<\/span>: Cho bi\u1ebft 1 t\u00ednh tr\u1ea1ng, b\u1ec7nh t\u1eadt n\u00e0o \u0111\u00f3 c\u00f3 di truy\u1ec1n hay kh\u00f4ng, v\u00e0 quy lu\u1eadt di truy\u1ec1n c\u1ee7a n\u00f3 \u0111\u1ec3 t\u1eeb \u0111\u00f3 \u0111\u01b0a ra c\u00e1c t\u01b0 v\u1eabn di truy\u1ec1n h\u1ee3p l\u00ed cho \u0111\u01b0\u01a1ng s\u1ef1<\/span><\/p>\n

          B, Nghi\u00ean c\u1ee9u tr\u1ebb \u0111\u1ed3ng sinh<\/b><\/p>\n

          * <\/b>Kh\u00e1i ni\u1ec7m<\/span>:\u00a0<\/b><\/p>\n

          \u00a0– Ph\u01b0\u01a1ng ph\u00e1p nghi\u00ean c\u1ee9u nh\u1eefng \u0111\u1ee9a con sinh ra do \u0111a thai \u0111\u01b0\u1ee3c g\u1ecdi l\u00e0 pp nghi\u00ean c\u1ee9u tr\u1ebb sinh \u0111\u00f4i<\/span><\/p>\n

          – \u1ede ng\u01b0\u1eddi c\u00f3 2 lo\u1ea1i sinh \u0111\u00f4i: sinh \u0111\u00f4i 1 h\u1ee3p t\u1eed (20-30%) v\u00e0 sinh \u0111\u00f4i 2 h\u1ee3p t\u1eed<\/span><\/p>\n

          – Tr\u1ebb do sinh \u0111\u00f4i 1 h\u1ee3p t\u1eed gi\u1ed1ng nhau v\u1ec1 VCDT, gi\u1ed1ng v\u1ec1 gi\u1edbi t\u00ednh v\u00e0 m\u1ed9t s\u1ed1 t\u00ednh tr\u1ea1ng, c\u00f2n 2 h\u1ee3p t\u1eed th\u00ec kh\u00e1c nhau v\u1ec1 VCDT nh\u01b0ng c\u00f9ng 1 m\u00f4i tr\u01b0\u1eddng trong qu\u00e1 tr\u00ecnh ph\u00e1t tri\u1ec3n ph\u00f4i<\/span><\/p>\n

          * <\/span>C\u00e1ch th\u1ef1c hi\u1ec7n<\/span>: Kh\u1ea3o s\u00e1t tr\u00ean m\u1ed9t s\u1ed1 l\u01b0\u1ee3ng l\u1edbn c\u00e1c c\u1eb7p tr\u1ebb sinh \u0111\u00f4i 1 h\u1ee3p t\u1eed v\u00e0 c\u00e1c c\u1eb7p sinh \u0111\u00f4i 2 h\u1ee3p t\u1eed<\/span><\/p>\n

          C\u00e1c th\u00f4ng s\u1ed1 nghi\u00ean c\u1ee9u: h\u1ec7 s\u1ed1 di truy\u1ec1n trong qu\u1ea7n th\u1ec3; h\u1ec7 s\u1ed1 di truy\u1ec1n c\u1ee7a t\u00ednh tr\u1ea1ng\/ b\u1ec7nh c\u1ee5<\/span><\/p>\n

          * <\/span>\u00dd ngh\u0129a<\/span>:<\/span><\/p>\n

          -Ph\u01b0\u01a1ng ph\u00e1p nghi\u00ean c\u1ee9u tr\u1ebb \u0111\u1ed3ng sinh \u0111\u01b0\u1ee3c d\u00f9ng \u0111\u1ec3 \u0111\u00e1nh gi\u00e1 t\u00e1c \u0111\u1ed9ng c\u1ee7a m\u00f4i tr\u01b0\u1eddng trong s\u1ef1 h\u00ecnh th\u00e0nh t\u00ednh tr\u1ea1ng.<\/span><\/p>\n

          -M\u1ed9t t\u00ednh tr\u1ea1ng ho\u1eb7c m\u1ed9t b\u1ec7nh n\u00e0o \u0111\u00f3 c\u00f3 th\u1ec3 \u1edf c\u1ea3 2 tr\u1ebb ( c\u00f3 s\u1ef1 t\u01b0\u01a1ng h\u1ee3p) ho\u1eb7c ch\u1ec9 c\u00f3 \u1edf 1 trong 2 ( kh\u00f4ng t\u01b0\u01a1ng h\u1ee3p)<\/span><\/p>\n

          -C\u00f4ng th\u1ee9c t\u00ednh \u0111\u1ed9 di truy\u1ec1n:<\/span><\/p>\n

          H=<\/span>% s\u1ed1 c\u1eb7p<\/span>sinh<\/span> \u0111\u00f4i 1 h\u1ee3p t\u1eed t\u01b0\u01a1ng h\u1ee3p-% s\u1ed1 c\u1eb7p<\/span>sinh<\/span> \u0111\u00f4i 2 h\u1ee3p t\u1eed t\u01b0\u01a1ng h\u1ee3p<\/span>\u00a0 <\/span>100%-% s\u1ed1 c\u1eb7p<\/span>sinh<\/span> \u0111\u00f4i 2 h\u1ee3p t\u1eed t\u01b0\u01a1ng h\u1ee3p<\/span><\/p>\n

          + H=0, t\u00ednh tr\u1ea1ng h\u00ecnh th\u00e0nh kh\u00f4ng c\u00f3 t\u00e1c \u0111\u1ed9ng c\u1ee7a di truy\u1ec1n<\/span><\/p>\n

          + 0<H<1, t\u00ednh tr\u1ea1ng ch\u1ecbu s\u1ef1 t\u00e1c \u0111\u1ed9ng c\u1ee7a m\u00f4i tr\u01b0\u1eddng v\u00e0 di truy\u1ec1n<\/span><\/p>\n

          + H=1, t\u00ednh tr\u1ea1ng ho\u00e0n to\u00e0n do di truy\u1ec1n quy\u1ebft \u0111\u1ecbnh<\/span><\/p>\n

          C, Ph\u00e2n t\u00edch n\u1ebfp v\u00e2n da<\/b><\/p>\n

          * <\/span>Tr\u00ecnh t\u1ef1 th\u1ef1c hi\u1ec7n:<\/span><\/p>\n

          – D\u00f9ng m\u1ef1c in l\u1ea7n l\u01b0\u1ee3t l\u00f2ng b\u00e0n tay v\u00e0 c\u00e1c \u0111\u1ea7u ng\u00f3n tay l\u00ean gi\u1ea5y ( sao cho th\u1ea5y r\u00f5 c\u00e1c \u0111\u01b0\u1eddng v\u00e2n da, c\u00e1c n\u1ebfp da, c\u00e1c ch\u1ea1c ba\u2026). C\u00f3 th\u1ec3 ch\u1ee5p h\u00ecnh ho\u1eb7c ph\u00e2n t\u00edch tr\u1ef1c ti\u1ebfp tr\u00ean tay\/ ch\u00e2n<\/span><\/p>\n

          – S\u1eed d\u1ee5ng h\u00ecnh \u1ea3nh thu \u0111\u01b0\u1ee3c \u0111\u1ec3 nghi\u00ean c\u1ee9u<\/span><\/p>\n

          – C\u00e1c ti\u00eau ch\u00ed \u0111\u00e1nh gi\u00e1:<\/span><\/p>\n

          + Tr\u00ean l\u00f2ng b\u00e0n tay:<\/span><\/p>\n

          + Tr\u00ean c\u00e1c \u0111\u1ea7u ng\u00f3n tay:<\/span><\/p>\n

          * <\/span>\u00dd ngh\u0129a:<\/span><\/p>\n

          – L\u00e0 \u0111\u1eb7c tr\u01b0ng cho t\u1eebng ng\u01b0\u1eddi, ph\u00e2n bi\u1ec7t c\u00e1c c\u00e1 th\u1ec3 ( sinh tr\u1eafc ph\u1ee5c v\u1ee5 t\u01b0 ph\u00e1p nh\u01b0 cmnd)<\/span><\/p>\n

          -Ph\u00e1p y<\/span><\/p>\n

          -B\u1ed5 sung b\u1ec7nh \u00e1n l\u00e2m s\u00e0ng \u0111\u1ec3 h\u1ed7 tr\u1ee3 chu\u1ea9n \u0111o\u00e1n ch\u00ednh x\u00e1c.<\/span><\/p>\n

          D, X\u00e9t nghi\u1ec7m th\u1ec3 Barr<\/b><\/p>\n

          * <\/span>C\u00e1c b\u01b0\u1edbc th\u1ef1c hi\u1ec7n:<\/span><\/p>\n

          -D\u00f9ng c\u00e2y \u0111\u00e8 l\u01b0\u1ee1i l\u1ea5y m\u1eabu t\u1ebf b\u00e0o ni\u00eam m\u1ea1c mi\u1ec7ng \u1edf m\u00e1 trong<\/span><\/p>\n

          -D\u00e0n m\u1eabu th\u1eadt m\u1ecfng l\u00ean lam k\u00ednh, sau \u0111\u00f3 \u0111\u1ec3 kh\u00f4 \u1edf nhi\u1ec7t \u0111\u1ed9 ph\u00f2ng<\/span><\/p>\n

          -C\u1ed1 \u0111\u1ecbnh m\u1eabu b\u1eb1ng dung d\u1ecbch carnoy trong v\u00f2ng 5 ph\u00fat, r\u1ed3i \u0111\u1ec3 kh\u00f4<\/span><\/p>\n

          -Nhu\u1ed9m b\u1eb1ng thu\u1ed1c nhu\u1ed9m Giemsa t\u1eeb 17-20 ph\u00fat<\/span><\/p>\n

          -R\u1eeda l\u1ea1i b\u1eb1ng n\u01b0\u1edbc sau \u0111\u00f3 l\u00e0 3 dung d\u1ecbch c\u1ed3n n\u1ed3ng \u0111\u1ed9 t\u1eeb th\u1ea5p t\u1edbi cao<\/span><\/p>\n

          -\u0110\u1ec3 kh\u00f4 r\u1ed3i quan s\u00e1t d\u01b0\u1edbi k\u00ednh hi\u1ec3n vi<\/span><\/p>\n

          * <\/span>\u00dd ngh\u0129a:<\/span> X\u00e1c \u0111\u1ecbnh kh\u1ea3 n\u0103ng b\u1ec7nh nh\u00e2n c\u00f3 m\u1eafc c\u00e1c b\u1ec7nh li\u00ean quan \u0111\u1ebfn NST gi\u1edbi t\u00ednh X.<\/span><\/p>\n

          C\u00e2u 4<\/b>: <\/span>C\u00e1c k\u0129 thu\u1eadt t\u00e1ch chi\u1ebft DNA t\u1ed5ng s\u1ed1, PCR, FISH, \u0111i\u1ec7n di.<\/b><\/p>\n

          A,\u00a0 K\u0129 thu\u1eadt t\u00e1ch chi\u1ebft DNA t\u1ed5ng s\u1ed1<\/b><\/p>\n

          *<\/span>Nguy\u00ean t\u1eafc th\u1ef1c hi\u1ec7n:<\/span><\/p>\n

          -Ph\u00e1 m\u00e0ng: h\u00f3a h\u1ecdc g\u00e2y m\u1ea5t \u1ed5n \u0111\u1ecbnh m\u00e0ng, c\u01a1 h\u1ecdc, v\u1eadt l\u00ed.<\/span><\/p>\n

          -Lo\u1ea1i b\u1ecf t\u1ea1p ch\u1ea5t<\/span><\/p>\n

          -Thu h\u1ed3i nucleic acid: t\u1ee7a, h\u1ea5p ph\u1ee5.<\/span><\/p>\n

          *<\/span>\u00dd ngh\u0129a<\/span>:<\/span><\/p>\n

          \u00a0\u00a0– Ph\u00e1t hi\u1ec7n c\u00e1c bi\u1ebfn \u0111\u1ed5i c\u1ee7a ADN, protein<\/span><\/p>\n

          \u00a0\u00a0– Ph\u00e1t hi\u1ec7n ng\u01b0\u1eddi l\u00e0nh mang gen b\u1ec7nh<\/span><\/p>\n

          \u00a0\u00a0– Ph\u00e1t hi\u1ec7n s\u1edbm nh\u1eefng r\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a<\/span><\/p>\n

          B, K\u0129 thu\u1eadt PCR<\/b><\/p>\n

          * <\/span>Nguy\u00ean t\u1eafc th\u1ef1c hi\u1ec7n<\/span>:<\/span>
          \n<\/span>-Y\u1ebfu t\u1ed1 quan tr\u1ecdng: k\u00edch th\u01b0\u1edbc \u0111o\u1ea1n gen m\u1ee5c ti\u00eau m\u00f4i \u0111\u1eb7c hi\u1ec7u(primer), nhi\u1ec7t \u0111\u1ed9 ph\u1ea3n \u1ee9ng. Enzyme polymerase, s\u1ed1 chu k\u1ef3 ph\u1ea3n \u1ee9ng<\/span><\/p>\n

          -3 b\u01b0\u1edbc ch\u00ednh\/chu k\u1ef3: T\u00e1ch m\u1ea1ch, g\u1eafn m\u1ed3i, k\u00e9o d\u00e0i m\u1ea1ch.<\/span><\/p>\n

          * <\/span>\u00dd ngh\u0129a<\/span>: t\u0103ng s\u1ed1 l\u01b0\u1ee3ng gen m\u1ee5c ti\u00eau, ph\u1ee5c v\u1ee5 cho nghi\u00ean c\u1ee9u. K\u1ef9 thu\u1eadt RT-PCR k\u1ebft h\u1ee3p \u0111i\u1ec7n di d\u00f9ng \u0111\u1ec3 x\u00e1c \u0111\u1ecbnh m\u1ed9t ng\u01b0\u1eddi c\u00f3 b\u1ecb nhi\u1ec5m m\u1ed9t s\u1ed1 lo\u1ea1i virus hay kh\u00f4ng, ch\u1eb3ng h\u1ea1n HIV,\u2026<\/span><\/p>\n

          C, K\u0129 thu\u1eadt FISH<\/b><\/p>\n

          * <\/span>\u00dd ngh\u0129a<\/span>:<\/span><\/p>\n

          –<\/span> Fish l\u00e0 k\u1ef9 thu\u1eadt trung gian gi\u1eefa di truy\u1ec1n t\u1ebf b\u00e0o v\u00e0 di truy\u1ec1n ph\u00e2n t\u1eed. \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n b\u1eb1ng c\u00e1ch d\u00f9ng m\u1ed9t \u0111o\u1ea1n m\u1eabu d\u00f2 (probe)\u00a0<\/span>NST m\u1ed3i<\/span> \u0111\u01b0\u1ee3c g\u1eafn t\u00edn hi\u1ec7u hu\u1ef3nh quang \u0111\u1ec3 ph\u00e1t hi\u1ec7n s\u1ef1 b\u1ea5t th\u01b0\u1eddng v\u1ec1 gen tr\u00ean m\u1ed9t nhi\u1ec5m s\u1eafc th\u1ec3 n\u00e0o \u0111\u00f3. <\/span>Vd<\/span>: d\u00f9ng FISH \u0111\u1ec3 x\u00e1c \u0111\u1ecbnh c\u00e1c tr\u01b0\u1eddng h\u1ee3p \u0111\u1ea3o ngh\u1ecbch gi\u1edbi, x\u00e1c \u0111\u1ecbnh Down,\u2026<\/span><\/p>\n

          * <\/span>C\u00e1c b\u01b0\u1edbc th\u1ef1c hi\u1ec7n<\/span>:\u00a0<\/span><\/p>\n

          + Chu\u1ea9n b\u1ecb \u0111\u1ea7u d\u00f2 v\u00e0 m\u1eabu d\u00f2<\/span><\/p>\n

          + Tr\u1ed9n m\u1eabu d\u00f2 v\u1edbi \u0111\u1ea7u d\u00f2<\/span><\/p>\n

          + Lai gi\u1eefa \u0111\u1ea7u d\u00f2 v\u00e0 tr\u00ecnh t\u1ef1 \u0111\u00edch \u0111\u1eb7c hi\u1ec7u n\u1eb1m trong t\u1ebf b\u00e0o<\/span><\/p>\n

          + R\u1eeda m\u1eabu \u0111\u1ec3 lo\u1ea1i b\u1ecf c\u00e1c \u0111\u1ea7u d\u00f2 kh\u1ed3ng \u0111\u01b0\u1ee3c lai<\/span><\/p>\n

          + D\u00f2 t\u00ecm m\u1eabu, quan s\u00e1t, hi\u1ec3n th\u1ecb v\u00e0 l\u01b0u tr\u1eef k\u1ebft qu\u1ea3<\/span><\/p>\n

          D, K\u0129 thu\u1eadt \u0111i\u1ec7n di<\/b><\/p>\n

          * <\/span>Nguy\u00ean t\u1eafc th\u1ef1c hi\u1ec7n<\/span><\/p>\n

          – Chu\u1ea9n b\u1ecb gel<\/span><\/p>\n

          – N\u1ea1p m\u1eabu v\u00e0o gi\u1ebfng tr\u00ean gel<\/span><\/p>\n

          – G\u1eafn ngu\u1ed3n \u0111i\u1ec7n 1 chi\u1ec1u<\/span><\/p>\n

          – Nhu\u1ed9m DNA (nhu\u1ed9m DNA th\u01b0\u1eddng ti\u1ebfn h\u00e0nh c\u00f9ng l\u00fac n\u1ea1p gel), quan s\u00e1t d\u01b0\u1edbi \u0111\u00e8n UV v\u00e0 ch\u1ee5p h\u00ecnh<\/span><\/p>\n

          * <\/span>\u00dd ngh\u0129a<\/span><\/p>\n

          – L\u00e0 ph\u01b0\u01a1ng ph\u00e1p \u0111\u1ec3 ph\u00e2n t\u00e1ch v\u00e0 ph\u00e2n t\u00edch c\u00e1c \u0111\u1ea1i ph\u00e2n t\u1eed d\u1ef1a tr\u00ean k\u00edch th\u01b0\u1edbc v\u00e0 \u0111i\u1ec7n t\u00edch<\/span><\/p>\n

          – \u1ee8ng d\u1ee5ng trong lai ph\u00e2n t\u1eed, gi\u1ea3i tr\u00ecnh t\u1ef1 DNA, t\u00e1ch DNA m\u1ee5c ti\u00eau, ph\u00e2n t\u00edch \u0111a h\u00ecnh chi\u1ec1u d\u00e0i DNA <\/span>\ud83e\udc6a<\/span> Ph\u00e2n t\u00edch, x\u00e1c \u0111\u1ecbnh c\u00e1c \u0111\u1ed9t bi\u1ebfn li\u00ean quan bi\u1ec3u hi\u1ec7n b\u1ec7nh di truy\u1ec1n<\/span><\/p>\n

          C\u00e2u 5<\/b>:<\/b> \u0110\u1eb7c \u0111i\u1ec3m s\u1ef1 di truy\u1ec1n c\u00e1c gen tr\u1ed9i tr\u00ean NST th\u01b0\u1eddng, gen l\u1eb7n tr\u00ean NST th\u01b0\u1eddng, gen tr\u1ed9i tr\u00ean NST gi\u1edbi t\u00ednh X, gen l\u1eb7n tr\u00ean NST gi\u1edbi t\u00ednh X. li\u1ec7t k\u00ea m\u1ed9t s\u1ed1 t\u00ednh tr\u1ea1ng \u1edf ng\u01b0\u1eddi tu\u00e2n theo c\u00e1c quy lu\u1eadt tr\u00ean.<\/b><\/p>\n

          A, Gen tr\u1ed9i tr\u00ean NST th\u01b0\u1eddng:<\/b><\/p>\n

          –<\/span> Kh\u1ea3 n\u0103ng m\u1eafc b\u1ec7nh c\u1ee7a nam v\u00e0 n\u1eef nh\u01b0 nhau.<\/span><\/p>\n

          – B\u1ed1 v\u00e0 m\u1eb9 l\u00e0 c\u00f3 kh\u1ea3 n\u0103ng ngang nhau trong vi\u1ec7c di truy\u1ec1n gen b\u1ec7nh v\u00e0 b\u1ec7nh cho c\u00e1c con trai v\u00e0 con g\u00e1i c\u1ee7a h\u1ecd.<\/span><\/p>\n

          – B\u1ec7nh di truy\u1ec1n tr\u1ef1c ti\u1ebfp t\u1eeb b\u1ed1 m\u1eb9 sang con c\u00e1i, xu\u1ea5t hi\u1ec7n li\u00ean t\u1ee5c kh\u00f4ng ng\u1eaft qu\u00e3ng qua c\u00e1c th\u1ebf h\u1ec7, \u0111\u1eb7c bi\u1ec7t khi gen b\u1ec7nh kh\u00f4ng g\u00e2y m\u1ea5t kh\u1ea3 n\u0103ng sinh s\u1ea3n. Tr\u01b0\u1eddng h\u1ee3p ng\u1eaft qu\u00e3ng gi\u1ea3 c\u00f3 th\u1ec3 x\u1ea9y ra \u1edf gia \u0111\u00ecnh \u0111\u1ebb \u00edt con.<\/span><\/p>\n

          – Tr\u1eeb tr\u01b0\u1eddng h\u1ee3p b\u1ed1 m\u1eb9 \u0111\u1ec1u b\u00ecnh th\u01b0\u1eddng th\u00ec kh\u1ea3 n\u0103ng m\u1ed9t ng\u01b0\u1eddi b\u1ec7nh d\u1ecb h\u1ee3p k\u1ebft h\u00f4n v\u1edbi m\u1ed9t ng\u01b0\u1eddi l\u00e0nh l\u00e0 hay g\u1eb7p nh\u1ea5t trong qu\u1ea7n th\u1ec3. Con c\u00e1i c\u1ee7a h\u1ecd trung b\u00ecnh 50% b\u1ecb b\u1ec7nh v\u00e0 50% l\u00e0nh.<\/span><\/p>\n

          – T\u1ef7 l\u1ec7 c\u00e1c c\u00e1 th\u1ec3 mang t\u00ednh tr\u1ea1ng ho\u1eb7c b\u1ec7nh di truy\u1ec1n do gen tr\u1ed9i l\u00e0 kh\u00e1 cao trong c\u00e1c gia \u0111\u00ecnh v\u00e0 th\u1ebf h\u1ec7, th\u01b0\u1eddng t\u1eeb 50% tr\u1edf l\u00ean.<\/span><\/p>\n

          – H\u1ea7u h\u1ebft c\u00e1c b\u1ec7nh tr\u1ed9i NST \u0111\u1ec1u c\u00f3 t\u00ednh ch\u1ea5t anticipation: th\u1ebf h\u1ec7 sau c\u00f3 xu h\u01b0\u1edbng bi\u1ec3u hi\u1ec7n s\u1edbm v\u00e0 nghi\u00eam tr\u1ecdng h\u01a1n th\u1ebf h\u1ec7 tr\u01b0\u1edbc.<\/span><\/p>\n

          – C\u00e1c allele g\u00e2y b\u1ec7nh tr\u1ed9i th\u01b0\u1eddng c\u00f3 t\u00ednh ch\u1ea5t c\u1ee7a allele g\u00e2y ch\u1ebft c\u00e1 th\u1ec3 mang n\u00f3 \u1edf tr\u1ea1ng th\u00e1i \u0111\u1ed3ng h\u1ee3p <\/span>\ud83e\udc6a<\/span> Ki\u1ec3u gene AA th\u01b0\u1eddng kh\u00f4ng t\u1ed3n t\u1ea1i trong qu\u1ea7n th\u1ec3.<\/span><\/p>\n

          – K\u1ebft h\u00f4n c\u1eadn huy\u1ebft qua nhi\u1ec1u th\u1ebf h\u1ec7 c\u00f3 th\u1ec3 g\u00f3p ph\u1ea7n lo\u1ea1i b\u1ecf gene g\u00e2y b\u1ec7nh tr\u1ed9i.<\/span><\/p>\n

          Vd<\/span>: <\/span>\u00a0<\/span>T\u1eadt d\u00ednh ng\u00f3n, T\u1eadt th\u1eeba ng\u00f3n v\u00e0 t\u1eadt ng\u1eafn ng\u00f3n, B\u1ec7nh u nguy\u00ean b\u00e0o v\u00f5ng m\u1ea1c (Retinoblastoma)\u2026<\/span><\/p>\n

          B, Gen l\u1eb7n tr\u00ean NST th\u01b0\u1eddng:<\/b><\/p>\n

          –<\/span> Kh\u1ea3 n\u0103ng m\u1eafc b\u1ec7nh c\u1ee7a nam v\u00e0 n\u1eef nh\u01b0 nhau.<\/span><\/p>\n

          – B\u1ed1 v\u00e0 m\u1eb9 l\u00e0 c\u00f3 kh\u1ea3 n\u0103ng ngang nhau trong vi\u1ec7c di truy\u1ec1n gen b\u1ec7nh v\u00e0 b\u1ec7nh cho c\u00e1c con trai v\u00e0 con g\u00e1i c\u1ee7a h\u1ecd.<\/span><\/p>\n

          – B\u1ec7nh c\u00f3 th\u1ec3 x\u1ea9y ra kh\u00f4ng li\u00ean t\u1ee5c, ng\u1eaft qu\u00e3ng qua c\u00e1c th\u1ebf h\u1ec7 v\u00e0 b\u1ec7nh x\u1ea9y ra l\u1ebb t\u1ebb, c\u00f3 t\u00ednh ch\u1ea5t gia \u0111\u00ecnh, kh\u00f4ng r\u00f5 t\u00ednh ch\u1ea5t d\u00f2ng h\u1ecd.<\/span><\/p>\n

          – Khi x\u00e9t v\u1ec1 gen b\u1ec7nh th\u00ec kh\u1ea3 n\u0103ng th\u01b0\u1eddng g\u1eb7p l\u00e0 hai ng\u01b0\u1eddi d\u1ecb h\u1ee3p t\u1eed k\u1ebft h\u00f4n v\u1edbi nhau. T\u1ef7 l\u1ec7 b\u1ecb b\u1ec7nh trong s\u1ed1 anh ch\u1ecb em ru\u1ed9t \u0111\u01b0\u01a1ng s\u1ef1 l\u00e0 kho\u1ea3ng 25%.<\/span><\/p>\n

          – C\u00e1c con c\u1ee7a ng\u01b0\u1eddi b\u1ec7nh l\u1eb7n tuy c\u00f3 ki\u1ec3u h\u00ecnh b\u00ecnh th\u01b0\u1eddng nh\u01b0ng lu\u00f4n lu\u00f4n l\u00e0 nh\u1eefng ng\u01b0\u1eddi d\u1ecb h\u1ee3p t\u1eed mang gen b\u1ec7nh l\u1eb7n.<\/span><\/p>\n

          – Trong qu\u1ea7n th\u1ec3 s\u1ed1 ng\u01b0\u1eddi mang gen b\u1ec7nh l\u1eb7n l\u1edbn h\u01a1n s\u1ed1 ng\u01b0\u1eddi m\u1eafc b\u1ec7nh l\u1eb7n r\u1ea5t nhi\u1ec1u.<\/span><\/p>\n

          K\u1ebft h\u00f4n c\u1eadn huy\u1ebft l\u00e0m t\u0103ng kh\u1ea3 n\u0103ng xu\u1ea5t hi\u1ec7n b\u1ec7nh v\u00e0 ph\u00e1t t\u00e1n allele g\u00e2y b\u1ec7nh r\u1ed9ng r\u00e3i trong qu\u1ea7n th\u1ec3.<\/span><\/p>\n

          Vd<\/span>: <\/span>\u00a0<\/span>B\u1ec7nh b\u1ea1ch t\u1ea1ng, b\u1ec7nh x\u01a1 nang, b\u1ec7nh da v\u1ea9y c\u00e1, t\u00e2m th\u1ea7n ph\u00e2n li\u1ec7t, b\u1ec7nh phenylxeton ni\u1ec7u\u2026<\/span><\/p>\n

          C, <\/b>Gen tr\u1ed9i tr\u00ean NST gi\u1edbi t\u00ednh X:<\/b><\/p>\n

          – Kh\u00f4ng c\u00f3 s\u1ef1 di truy\u1ec1n t\u1eeb nam sang nam v\u00ec con trai lu\u00f4n ch\u1ec9 nh\u1eadn NST Y t\u1eeb b\u1ed1.<\/span><\/p>\n

          – <\/span>B\u1ed1 v\u00e0 m\u1eb9 c\u00f3 vai tr\u00f2 kh\u00e1c nhau trong s\u1ef1 di truy\u1ec1n gen b\u1ec7nh v\u00e0 b\u1ec7nh cho con thu\u1ed9c gi\u1edbi nam v\u00e0 gi\u1edbi n\u1eef: gen b\u1ec7nh tr\u00ean NST X t\u1eeb b\u1ed1 lu\u00f4n ch\u1ec9 di truy\u1ec1n cho con g\u00e1i; con trai b\u1ecb di truy\u1ec1n gen b\u1ec7nh t\u1eeb NST X t\u1eeb ngu\u1ed3n m\u1eb9.<\/span><\/p>\n

          – \u1ede nam gi\u1edbi, t\u1ebf b\u00e0o mang c\u1eb7p NST gi\u1edbi XY. Gen tr\u00ean NST X t\u1ed3n t\u1ea1i \u1edf d\u1ea1ng kh\u00f4ng c\u00f3 alen t\u01b0\u01a1ng \u1ee9ng n\u00ean alen b\u1ec7nh tr\u00ean NST X lu\u00f4n bi\u1ec3u hi\u1ec7n d\u00f9 alen \u0111\u00f3 \u0111\u01b0\u1ee3c coi l\u00e0 \u201calen tr\u1ed9i\u201d hay \u201calen l\u1eb7n\u201d \u1edf c\u01a1 th\u1ec3 n\u1eef.<\/span><\/p>\n

          – C\u1ea3 hai gi\u1edbi nam v\u00e0 n\u1eef \u0111\u1ec1u c\u00f3 th\u1ec3 b\u1ecb m\u1eafc b\u1ec7nh v\u00e0 \u0111\u1ec1u c\u00f3 th\u1ec3 di truy\u1ec1n gen b\u1ec7nh v\u00e0 b\u1ec7nh cho th\u1ebf h\u1ec7 sau nh\u01b0ng v\u1edbi t\u1ea7n s\u1ed1 v\u00e0 kh\u1ea3 n\u0103ng kh\u00e1c nhau.<\/span><\/p>\n

          – T\u1ea7n su\u1ea5t c\u1ee7a ph\u1ee5 n\u1eef m\u1eafc b\u1ec7nh kho\u1ea3ng g\u1ea5p \u0111\u00f4i so v\u1edbi s\u1ed1 nam gi\u1edbi b\u1ecb b\u1ec7nh trong qu\u1ea7n th\u1ec3.<\/span><\/p>\n

          – B\u1ec7nh c\u00f3 t\u00ednh bi\u1ebfn thi\u00ean m\u1ea1nh \u1edf nh\u1eefng ng\u01b0\u1eddi n\u1eef c\u00f9ng ki\u1ec3u gene d\u1ecb h\u1ee3p.<\/span><\/p>\n

          Vd<\/span>: <\/span>B\u1ec7nh c\u00f2i x\u01b0\u01a1ng kh\u00e1ng vitamin D, b\u1ec7nh r\u1ed1i lo\u1ea1n s\u1eafc t\u1ed1 incontinentia\u2026<\/span><\/p>\n

          D, <\/b>Gen l\u1eb7n tr\u00ean NST gi\u1edbi t\u00ednh X:<\/b><\/p>\n

          – Kh\u00f4ng c\u00f3 s\u1ef1 di truy\u1ec1n t\u1eeb nam sang nam v\u00ec con trai lu\u00f4n ch\u1ec9 nh\u1eadn NST Y t\u1eeb b\u1ed1.<\/span><\/p>\n

          – <\/span>B\u1ed1 v\u00e0 m\u1eb9 c\u00f3 vai tr\u00f2 kh\u00e1c nhau trong s\u1ef1 di truy\u1ec1n gen b\u1ec7nh v\u00e0 b\u1ec7nh cho con thu\u1ed9c gi\u1edbi nam v\u00e0 gi\u1edbi n\u1eef: gen b\u1ec7nh tr\u00ean NST X t\u1eeb b\u1ed1 lu\u00f4n ch\u1ec9 di truy\u1ec1n cho con g\u00e1i; con trai b\u1ecb di truy\u1ec1n gen b\u1ec7nh t\u1eeb NST X t\u1eeb ngu\u1ed3n m\u1eb9.<\/span><\/p>\n

          – \u1ede nam gi\u1edbi, t\u1ebf b\u00e0o mang c\u1eb7p NST gi\u1edbi XY. Gen tr\u00ean NST X t\u1ed3n t\u1ea1i \u1edf d\u1ea1ng kh\u00f4ng c\u00f3 alen t\u01b0\u01a1ng \u1ee9ng n\u00ean alen b\u1ec7nh tr\u00ean NST X lu\u00f4n bi\u1ec3u hi\u1ec7n d\u00f9 alen \u0111\u00f3 \u0111\u01b0\u1ee3c coi l\u00e0 \u201calen tr\u1ed9i\u201d hay \u201calen l\u1eb7n\u201d \u1edf c\u01a1 th\u1ec3 n\u1eef.<\/span><\/p>\n

          – <\/span>D\u1ea1ng \u0111i\u1ec3n h\u00ecnh c\u1ee7a gia h\u1ec7 b\u1ec7nh di truy\u1ec1n l\u1eb7n li\u00ean k\u1ebft NST X l\u00e0 h\u00ecnh \u1ea3nh \u201cdi truy\u1ec1n nghi\u00eang\u201d.<\/span><\/p>\n

          – B\u1ec7nh di truy\u1ec1n alen l\u1eb7n li\u00ean k\u1ebft NST X th\u01b0\u1eddng g\u1eb7p nhi\u1ec1u ng\u01b0\u1eddi b\u1ec7nh l\u00e0 thu\u1ed9c gi\u1edbi nam; ng\u01b0\u1eddi b\u1ec7nh l\u00e0 n\u1eef \u0111\u1ed3ng h\u1ee3p t\u1eed r\u1ea5t hi\u1ebfm g\u1eb7p, ch\u1ec9 x\u1ea9y ra khi c\u00f3 k\u1ebft h\u00f4n c\u1eadn huy\u1ebft \u1edf d\u00f2ng h\u1ecd c\u00f3 l\u01b0u truy\u1ec1n gen b\u1ec7nh ho\u1eb7c k\u1ebft h\u00f4n \u1edf c\u00e1c qu\u1ea7n th\u1ec3 c\u00f4 l\u1eadp.<\/span><\/p>\n

          – N\u1ebfu m\u1eb9 b\u1ecb b\u1ec7nh th\u00ec 100% con trai \u0111\u1ec1u b\u1ecb b\u1ec7nh do m\u1eb9 di truy\u1ec1n cho v\u00e0 c\u00e1c con g\u00e1i \u0111\u1ec1u l\u00e0 ng\u01b0\u1eddi mang gen b\u1ec7nh.<\/span><\/p>\n

          – N\u1ebfu m\u1ed9t \u00f4ng b\u1ed1 b\u1ecb b\u1ec7nh th\u00ec t\u1ea5t c\u1ea3 c\u00e1c con g\u00e1i \u0111\u1ec1u l\u00e0 ng\u01b0\u1eddi mang gen b\u1ec7nh v\u00e0 \u00f4ng b\u1ed1 n\u00e0y kh\u00f4ng th\u1ec3 truy\u1ec1n b\u1ec7nh v\u00e0 gen b\u1ec7nh cho con trai.<\/span><\/p>\n

          Vd<\/span>: B\u1ec7nh lo\u1ea1n d\u01b0\u1ee1ng c\u01a1, <\/span>b\u1ec7nh Hemophilia A, vi\u00eam v\u00f5ng m\u1ea1c s\u1eafc t\u1ed1 nh\u00e3n c\u1ea7u\u2026<\/span><\/p>\n

          C\u00e2u 6<\/b>: Ph\u00e2n bi\u1ec7t s\u1ef1 di truy\u1ec1n tr\u1ed9i tr\u00ean NST th\u01b0\u1eddng v\u00e0 l\u1eb7n tr\u00ean NST th\u01b0\u1eddng: tr\u1ed9i tr\u00ean NST th\u01b0\u1eddng v\u1edbi tr\u1ed9i tr\u00ean NST gi\u1edbi t\u00ednh X.<\/b><\/p>\n\n\n\n\n
          Gen tr\u1ed9i tr\u00ean NST th\u01b0\u1eddng<\/b><\/td>\nL\u1eb7n tr\u00ean NST th\u01b0\u1eddng<\/b><\/td>\n<\/tr>\n
          – B\u1ec7nh di truy\u1ec1n tr\u1ef1c ti\u1ebfp t\u1eeb b\u1ed1 m\u1eb9 sang con c\u00e1i, xu\u1ea5t hi\u1ec7n li\u00ean t\u1ee5c kh\u00f4ng ng\u1eaft qu\u00e3ng qua c\u00e1c th\u1ebf h\u1ec7, \u0111\u1eb7c bi\u1ec7t khi gen b\u1ec7nh kh\u00f4ng g\u00e2y m\u1ea5t kh\u1ea3 n\u0103ng sinh s\u1ea3n. Tr\u01b0\u1eddng h\u1ee3p ng\u1eaft qu\u00e3ng gi\u1ea3 c\u00f3 th\u1ec3 x\u1ea9y ra \u1edf gia \u0111\u00ecnh \u0111\u1ebb \u00edt con.<\/span><\/p>\n

          – Tr\u1eeb tr\u01b0\u1eddng h\u1ee3p b\u1ed1 m\u1eb9 \u0111\u1ec1u b\u00ecnh th\u01b0\u1eddng th\u00ec kh\u1ea3 n\u0103ng m\u1ed9t ng\u01b0\u1eddi b\u1ec7nh d\u1ecb h\u1ee3p k\u1ebft h\u00f4n v\u1edbi m\u1ed9t ng\u01b0\u1eddi l\u00e0nh l\u00e0 hay g\u1eb7p nh\u1ea5t trong qu\u1ea7n th\u1ec3. Con c\u00e1i c\u1ee7a h\u1ecd trung b\u00ecnh 50% b\u1ecb b\u1ec7nh v\u00e0 50% l\u00e0nh.<\/span><\/p>\n

          – T\u1ef7 l\u1ec7 c\u00e1c c\u00e1 th\u1ec3 mang t\u00ednh tr\u1ea1ng ho\u1eb7c b\u1ec7nh di truy\u1ec1n do gen tr\u1ed9i l\u00e0 kh\u00e1 cao trong c\u00e1c gia \u0111\u00ecnh v\u00e0 th\u1ebf h\u1ec7, th\u01b0\u1eddng t\u1eeb 50% tr\u1edf l\u00ean.<\/span><\/p>\n

          Vd<\/span>: <\/span>\u00a0<\/span>T\u1eadt d\u00ednh ng\u00f3n, T\u1eadt th\u1eeba ng\u00f3n v\u00e0 t\u1eadt ng\u1eafn ng\u00f3n, B\u1ec7nh u nguy\u00ean b\u00e0o v\u00f5ng m\u1ea1c (Retinoblastoma)\u2026<\/span><\/td>\n

          		– B\u1ec7nh c\u00f3 th\u1ec3 x\u1ea9y ra kh\u00f4ng li\u00ean t\u1ee5c, ng\u1eaft qu\u00e3ng qua c\u00e1c th\u1ebf h\u1ec7 v\u00e0 b\u1ec7nh x\u1ea9y ra l\u1ebb t\u1ebb, c\u00f3 t\u00ednh ch\u1ea5t gia \u0111\u00ecnh, kh\u00f4ng r\u00f5 t\u00ednh ch\u1ea5t d\u00f2ng h\u1ecd.<\/span><\/p>\n

          – Khi x\u00e9t v\u1ec1 gen b\u1ec7nh th\u00ec kh\u1ea3 n\u0103ng th\u01b0\u1eddng g\u1eb7p l\u00e0 hai ng\u01b0\u1eddi d\u1ecb h\u1ee3p t\u1eed k\u1ebft h\u00f4n v\u1edbi nhau. T\u1ef7 l\u1ec7 b\u1ecb b\u1ec7nh trong s\u1ed1 anh ch\u1ecb em ru\u1ed9t \u0111\u01b0\u01a1ng s\u1ef1 l\u00e0 kho\u1ea3ng 25%.<\/span><\/p>\n

          – Trong qu\u1ea7n th\u1ec3 s\u1ed1 ng\u01b0\u1eddi mang gen b\u1ec7nh l\u1eb7n l\u1edbn h\u01a1n s\u1ed1 ng\u01b0\u1eddi m\u1eafc b\u1ec7nh l\u1eb7n r\u1ea5t nhi\u1ec1u.<\/span><\/p>\n

          – C\u00e1c con c\u1ee7a ng\u01b0\u1eddi b\u1ec7nh l\u1eb7n tuy c\u00f3 ki\u1ec3u h\u00ecnh b\u00ecnh th\u01b0\u1eddng nh\u01b0ng lu\u00f4n lu\u00f4n l\u00e0 nh\u1eefng ng\u01b0\u1eddi d\u1ecb h\u1ee3p t\u1eed mang gen b\u1ec7nh l\u1eb7n.<\/span><\/p>\n

          Vd<\/span>: <\/span>\u00a0<\/span>B\u1ec7nh b\u1ea1ch t\u1ea1ng, b\u1ec7nh x\u01a1 nang, b\u1ec7nh da v\u1ea9y c\u00e1, t\u00e2m th\u1ea7n ph\u00e2n li\u1ec7t, b\u1ec7nh phenylxeton ni\u1ec7u\u2026<\/span><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n\n\n\n\n
          Gen tr\u1ed9i tr\u00ean NST th\u01b0\u1eddng<\/b><\/td>\nGen tr\u1ed9i tr\u00ean NST gi\u1edbi t\u00ednh X<\/b><\/td>\n<\/tr>\n
          –<\/span> Kh\u1ea3 n\u0103ng m\u1eafc b\u1ec7nh c\u1ee7a nam v\u00e0 n\u1eef nh\u01b0 nhau.<\/span><\/p>\n

          – B\u1ed1 v\u00e0 m\u1eb9 l\u00e0 c\u00f3 kh\u1ea3 n\u0103ng ngang nhau trong vi\u1ec7c di truy\u1ec1n gen b\u1ec7nh v\u00e0 b\u1ec7nh cho c\u00e1c con trai v\u00e0 con g\u00e1i c\u1ee7a h\u1ecd.<\/span><\/p>\n

          Vd<\/span>: <\/span>\u00a0<\/span>T\u1eadt d\u00ednh ng\u00f3n, T\u1eadt th\u1eeba ng\u00f3n v\u00e0 t\u1eadt ng\u1eafn ng\u00f3n, B\u1ec7nh u nguy\u00ean b\u00e0o v\u00f5ng m\u1ea1c (Retinoblastoma)\u2026<\/span><\/td>\n

          		–<\/span> Kh\u1ea3 n\u0103ng m\u1eafc b\u1ec7nh c\u1ee7a nam v\u00e0 n\u1eef kh\u00e1c nhau.<\/span><\/p>\n

          – <\/span>B\u1ed1 v\u00e0 m\u1eb9 c\u00f3 vai tr\u00f2 kh\u00e1c nhau trong s\u1ef1 di truy\u1ec1n gen b\u1ec7nh v\u00e0 b\u1ec7nh cho con thu\u1ed9c gi\u1edbi nam v\u00e0 gi\u1edbi n\u1eef: gen b\u1ec7nh tr\u00ean NST X t\u1eeb b\u1ed1 lu\u00f4n ch\u1ec9 di truy\u1ec1n cho con g\u00e1i; con trai b\u1ecb di truy\u1ec1n gen b\u1ec7nh t\u1eeb NST X t\u1eeb ngu\u1ed3n m\u1eb9.<\/span><\/p>\n

          Vd<\/span>: <\/span>B\u1ec7nh c\u00f2i x\u01b0\u01a1ng kh\u00e1ng vitamin D, b\u1ec7nh r\u1ed1i lo\u1ea1n s\u1eafc t\u1ed1 incontinentia\u2026<\/span><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

          C\u00e2u 7<\/b>: <\/span>B\u1ed9 NST ng\u01b0\u1eddi<\/b><\/p>\n

          A<\/b>,\u00a0<\/span><\/p>\n

          * <\/span>\u0110\u1eb7c \u0111i\u1ec3m c\u1ea5u tr\u00fac b\u1ed9 gen ng\u01b0\u1eddi<\/span>:<\/span><\/p>\n

          – <\/span>B\u1ed9 gen ng\u01b0\u1eddi c\u00f3 kho\u1ea3ng t\u1eeb 20.000-25.0000 gen, \u0111\u01b0\u1ee3c t\u1eadp h\u1ee3p b\u00ean trong c\u00e1c nhi\u1ec5m s\u1eafc th\u1ec3 (NST) n\u1eb1m trong nh\u00e2n t\u1ebf b\u00e0o. B\u1ed9 gen ng\u01b0\u1eddi bao g\u1ed3m kho\u1ea3ng 3 t\u1ef7 ph\u00e2n t\u1eed c\u1eb7p baz\u01a1.<\/span><\/p>\n

          – T\u1ebf b\u00e0o ng\u01b0\u1eddi ch\u1ee9a 23 c\u1eb7p NST g\u1ed3m 22 c\u1eb7p NST th\u01b0\u1eddng v\u00e0 m\u1ed9t c\u1eb7p NST gi\u1edbi t\u00ednh (n\u1eef l\u00e0 c\u1eb7p nhi\u1ec5m s\u1eafc th\u1ec3 XX; nam l\u00e0 c\u1eb7p nhi\u1ec5m s\u1eafc th\u1ec3 XY). Chia l\u00e0m 7 nh\u00f3m:<\/span><\/p>\n

            \n
          • Nh\u00f3m A: 3 c\u1eb7p NST(1-3) c\u00f3 k\u00edch th\u01b0\u1edbc l\u1edbn nh\u1ea5t, c\u1eb7p 1+2 t\u00e2m gi\u1eefa, c\u1eb7p 2 t\u00e2m l\u1ec7ch<\/span>
            \n<\/span>\u2022 Nh\u00f3m B: 2 c\u1eb7p NST(4,5) , k\u00edch th\u01b0\u1edbc l\u1edbn, kh\u00f4ng ph\u00e2n bi\u1ec7t \u0111\u01b0\u1ee3c b\u1eb1ng chi\u1ec1u d\u00e0i. \u0110\u1ec1u c\u00f3 t\u00e2m l\u1ec7ch.<\/span>
            \n<\/span>\u2022 Nh\u00f3m C: 7 c\u1eb7p NST(6-12), k\u00edch th\u01b0\u1edbc trung b\u00ecnh, kh\u00f3 ph\u00e2n bi\u1ec7t. \u0110\u1ec1u c\u00f3 t\u00e2m l\u1ec7ch.( bao g\u1ed3m NST X)<\/span>
            \n<\/span>\u2022 Nh\u00f3m D: 3 c\u1eb7pNST(13-15),k\u00edch th\u01b0\u1edbc trung b\u00ecnh, kh\u00f3 ph\u00e2n bi\u1ec7t.\u0110\u1ec1u t\u00e2m \u0111\u1ea7u<\/span>
            \n<\/span>\u2022 Nh\u00f3m E: 3 c\u1eb7p NST(16-18), kh\u00edch th\u01b0\u1edbc t\u01b0\u01a1ng \u0111\u1ed1i ng\u1eafn.NST 16 t\u00e2m gi\u1eefa, NST 17+18 t\u00e2m l\u1ec7ch<\/span>
            \n<\/span>\u2022 Nh\u00f3m F: 2 c\u1eb7p NST(19,20), k\u00edch th\u01b0\u1edbc ng\u1eafn, t\u00e2m gi\u1eefa.<\/span>
            \n<\/span>\u2022 Nh\u00f3m G: 2 c\u1eb7p NST(21,22), k\u00edch th\u01b0\u1edbc ng\u1eafn, t\u00e2m \u0111\u1ea7u. (bao g\u1ed3m NST Y)<\/span><\/li>\n<\/ul>\n

            – Hai c\u00e1 th\u1ec3 ng\u01b0\u1eddi kh\u00e1c nhau c\u00f3 b\u1ed9 gen gi\u1ed1ng nhau \u0111\u1ebfn 99,9% v\u00e0 kh\u00e1c nhau ch\u1ec9 c\u00f3 0,1%.\u00a0<\/span><\/p>\n

            * <\/span>Vai tr\u00f2 c\u1ee7a c\u00e1c nh\u00e2n t\u1ed1 chuy\u1ec3n v\u1ecb<\/span>:<\/span><\/p>\n

            – Ch\u1ee9c n\u0103ng nh\u01b0 c\u00e1c vecto quan tr\u1ecdng th\u1ef1c hi\u1ec7n bi\u1ebfn \u0111\u1ed5i di truy\u1ec1n. Ch\u00fang ho\u1ea1t h\u00f3a hay l\u00e0m b\u1ea5y ho\u1ea1t c\u00e1c gen b\u1eb1ng c\u00e1ch ch\u00fang xen v\u00e0o k\u1ebf b\u00ean hay gi\u1eefa \u0111o\u1ea1n gen \u0111\u00f3 \u0111\u1ec3 r\u1ed3i \u0111i\u1ec1u ch\u1ec9nh s\u1ef1 \u0111\u00f3ng, m\u1edf c\u1ee7a gen\u00a0<\/span><\/p>\n

            – C\u00e1c nh\u00e2n t\u1ed1 chuy\u1ec3n v\u1ecb c\u00f3 ho\u1ea1t h\u00f3a gen: n\u1ebfu nh\u00e2n t\u1eed chuy\u1ec3n v\u1ecb c\u00f3 th\u1ec3 ch\u00e8n v\u00e0o c\u1ea5u tr\u00fac gen v\u00e0 tr\u00ecnh t\u1ef1 \u0111i\u1ec1u ti\u1ebft gen, d\u1eabn \u0111\u1ebfn hi\u1ec7n t\u01b0\u1ee3ng thay \u0111\u1ed5i n\u1ed9i dung bi\u1ec3u hi\u1ec7n gen, v\u00ed d\u1ee5 khi\u1ebfn gen n\u00e0y ng\u1eebng ho\u1ea1t \u0111\u1ed9ng, n\u1ebfu l\u00e0 gen quan tr\u1ecdng s\u1ebd c\u00f3 th\u1ec3 khi\u1ebfn t\u1ebf b\u00e0o ch\u1ebft \u0111i.<\/span><\/p>\n

            * <\/span>\u0110\u1eb7c \u0111i\u1ec1m c\u1ea5u tr\u00fac v\u00e0 c\u01a1 ch\u1ebf chuy\u1ec1n v\u1ecb lines v\u00e0 sines<\/span>:<\/span><\/p>\n

            LINEs<\/b><\/p>\n

            – Chi\u1ec1u d\u00e0i \u0111\u1ea7y \u0111\u1ee7 kho\u1ea3ng 6kb<\/span><\/p>\n

            – \u1ede ng\u01b0\u1eddi ch\u1ee9a 3 h\u1ecd ch\u00ednh c\u1ee7a LINE gi\u1ed1ng nhau v\u1ec1 c\u01a1 ch\u1ebf chuy\u1ec3n v\u1ecb nh\u01b0ng kh\u00e1c nhau v\u1ec1 tr\u00ecnh t\u1ef1: L1, L2 v\u00e0 L3.<\/span><\/p>\n

            – C\u1ea5u tr\u00fac chung: \u0111\u01b0\u1ee3c bao quanh b\u1edfi c\u00e1c \u0111o\u1ea1n ORF1 m\u00e3 h\u00f3a 1 protein li\u00ean k\u1ebft RNA + ORF2 m\u00e3 h\u00f3a 1 v\u00f9ng t\u01b0\u01a1ng \u0111\u1ed3ng d\u00e0i v\u1edbi c\u00e1c b\u1ea3n sao ch\u00e9p ng\u01b0\u1ee3c c\u1ee7a c\u00e1c retrovirus v\u00e0 c\u00e1c retrotransposon LTR, nh\u01b0ng c\u0169ng th\u1ec3 hi\u1ec7n ho\u1ea1t t\u00ednh edonuclease c\u1ee7a DNA.<\/span><\/p>\n

            – C\u01a1 ch\u1ebf chuy\u1ec3n v\u1ecb:<\/span><\/p>\n

            + Phi\u00ean m\u00e3 v\u00e0 d\u1ecbch m\u00e3 \u0111\u1ec3 t\u1ea1o ra enzyme chuy\u1ec3n v\u1ecb g\u1ed3m:\u00a0<\/span><\/p>\n

            + Enzyme chuy\u1ec3n v\u1ecb li\u00ean k\u1ebft v\u1edbi mRNA<\/span>LINE<\/span>, \u0111\u01b0a mRNA<\/span>LINE <\/span>v\u00e0o l\u1ea1i trong nh\u00e2n.<\/span><\/p>\n

            + Ti\u1ebfp c\u1eadn DNA \u0111\u00edch t\u1ea1i v\u00f9ng tr\u00ecnh t\u1ef1 gi\u00e0u AT t\u1ea1o ra c\u00e1c v\u1ebft c\u1eaft so le trong DNA, t\u1ea1o ra c\u00e1c \u0111\u1ea7u DNA 3\u2019-OH.<\/span><\/p>\n

            + C\u1eaft DNA t\u1ea1i v\u00f9ng tr\u00ecnh t\u1ef1 \u0111\u00edch 9bp<\/span><\/p>\n

            + Sao l\u1ea1i th\u00f4ng tin t\u1eeb mRNA<\/span>LINE<\/span> th\u00e0nh th\u00f4ng tin tr\u00ean DNA \u0111\u01a1n nh\u1edd ho\u1ea1t t\u00ednh phi\u00ean m\u00e3 ng\u01b0\u1ee3c c\u1ee7a enzyme chuy\u1ec3n v\u1ecb. Ph\u00e2n h\u1ee7y mRNA<\/span>LINE<\/span>. M\u1ea1ch DNA c\u00f2n l\u1ea1i \u0111\u01b0\u1ee3c sao ch\u00e9p v\u00e0 ho\u00e0n thi\u1ec7n nh\u1edd enzyme c\u1ee7a t\u1ebf b\u00e0o.<\/span><\/p>\n

            SINEs<\/b><\/p>\n

            – C\u1ea5u tr\u00fac chung:<\/span><\/p>\n

            + L\u00e0 lo\u1ea1i y\u1ebfu t\u1ed1 di \u0111\u1ed9ng phong ph\u00fa nh\u1ea5t trong gen ng\u01b0\u1eddi, chi\u1ebfm kho\u1ea3ng 13% t\u1ed5ng s\u1ed1 DNA \u1edf ng\u01b0\u1eddi.<\/span><\/p>\n

            + \u0110\u1ed9 d\u00e0i thay \u0111\u1ed5i t\u1eeb 100 \u2013 400 pb.<\/span><\/p>\n

            + SINE c\u00f3 ngu\u1ed3n g\u1ed1c t\u1eeb tRNA \u0111\u1eb7c bi\u1ec7t phong ph\u00fa.<\/span><\/p>\n

            – C\u01a1 ch\u1ebf chuy\u1ec3n v\u1ecb: C\u00e1c chuy\u1ec3n v\u1ecb DNA m\u00e3 h\u00f3a m\u1ed9t enzyme transposase x\u00fac t\u00e1c qu\u00e1 tr\u00ecnh c\u1eaft b\u1ecf DNA transposon v\u00e0 t\u00edch h\u1ee3p n\u00f3 v\u00e0o m\u1ed9t v\u1ecb tr\u00ed b\u1ed9 gen m\u1edbi (c\u01a1 ch\u1ebf ‘c\u1eaft v\u00e0 d\u00e1n’).<\/span><\/p>\n

              \n
            • Lines <\/b>di chuy\u1ec3n nh\u1edd ritrotransposition \u0111\u00e3 s\u1eed d\u1ee5ng y\u1ebfu t\u1ed1 m\u00e3 h\u00f3a reverse transciptase nh\u01b0ng l\u1ea1i thi\u1ebfu m\u1ed9t v\u00e0i t\u00ednh ch\u1ea5t v\u1ec1 c\u1ea5u tr\u00fac c\u1ee7a y\u1ebfu t\u1ed1 gi\u1ed1ng retrovirus bao g\u1ed3m LTR<\/span><\/li>\n<\/ul>\n
                \n
              • Sines<\/b> \u0111\u01b0\u1ee3c m\u00f4 t\u1ea3 nh\u01b0 lines kh\u00f4ng t\u1ef1 \u0111\u1ed9ng. V\u00ec ch\u00fang c\u00f3 t\u00ednh ch\u1ea5t c\u1ea5u tr\u00fac \u0111\u1eb7c tr\u01b0ng c\u1ee7a lines nh\u01b0ng kh\u00f4ng m\u00e3 h\u00f3a cho reverse transciptase ri\u00eang. Ng\u01b0\u1eddi ta cho r\u1eb1ng ch\u00fang di chuy\u1ec3n \u0111\u01b0\u1ee3c nh\u1edd enzyme reverse transciptase \u0111\u01b0\u1ee3c m\u00e3 h\u00f3a b\u1edfi lines trong gen.<\/span><\/li>\n<\/ul>\n

                B, \u0110\u1eb7c \u0111i\u1ec3m c\u1ea5u tr\u00fac v\u00e0 ch\u1ee9c n\u0103ng c\u1ee7a NST gi\u1edbi t\u00ednh X v\u00e0 Y? C\u00e1c h\u1eadu qu\u1ea3 c\u00f3 th\u1ec3 c\u00f3 khi x\u1ea3y ra \u0111\u1ed9t bi\u1ebfn c\u1ea5u tr\u00fac tr\u00ean 2 NST n\u00e0y<\/b><\/p>\n

                * <\/span>NST X<\/span>:<\/span><\/p>\n

                – \u0110\u1eb7c \u0111i\u1ec3m c\u1ea5u tr\u00fac v\u00e0 ch\u1ee9c n\u0103ng: <\/span><\/p>\n

                  \n
                • Ki\u0301ch th\u01b0\u01a1\u0301c l\u01a1\u0301n h\u01a1n NST Y<\/span>
                  \n<\/span> \u2022 G\u00f4\u0300m 156 tri\u00ea\u0323u c\u0103\u0323p nu, 2000 gen va\u0300 chi\u00ea\u0301m khoa\u0309ng 5%<\/span>
                  \n<\/span> \u2022 \u0110\u0103\u0323c \u0111i\u00ea\u0309m gen tr\u00ean NST:<\/span>
                  \n<\/span> \u00a0 + DAX1 \u01b0\u0301c ch\u00ea\u0301 hi\u0301nh tha\u0300nh tinh hoa\u0300n, quy \u0111i\u0323nh gi\u01a1\u0301i ti\u0301nh nu\u0303<\/span>
                  \n<\/span> \u00a0 + Hi\u00ea\u0323n t\u01b0\u01a1\u0323ng b\u00e2\u0301t hoa\u0323t NST X di kh\u00f4ng co\u0301 gen XIST tr\u00ean NST X<\/span>
                  \n<\/span> \u00a0 + Hai \u0111\u00e2\u0300u NST cu\u0303ng co\u0301 ca\u0301c vu\u0300ng gia\u0309 NST th\u01b0\u01a1\u0300ng\u00a0<\/span><\/li>\n<\/ul>\n

                  – H\u1eadu qu\u1ea3 c\u1ee7a \u0111\u1ed9t bi\u1ebfn:<\/span><\/p>\n

                  \u00a0\u00a0\u00a0\u2e30 Chuy\u1ec3n \u0111o\u1ea1n c\u00e2n b\u1eb1ng ho\u1eb7c kh\u00f4ng c\u00e2n b\u1eb1ng gi\u1eefa NST X v\u00e0 NST th\u01b0\u1eddng g\u00e2y ra thi\u1ec3u n\u0103ng bu\u1ed3ng tr\u1ee9ng nguy\u00ean ph\u00e1t ho\u1eb7c th\u1ee9 ph\u00e1t v\u1edbi nh\u1eefng bi\u1ec3u hi\u1ec7n h\u1ed9i ch\u1ee9ng Turner \u1edf m\u1ee9c \u0111\u1ed9 kh\u00e1c nhau.<\/span>
                  \n<\/span> \u00a0 \u2e30 NST X m\u1ea5t nh\u00e1nh d\u00e0i: <\/span><\/p>\n

                  \u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0+ Tuy\u1ebfn sinh d\u1ee5c kh\u00f4ng ph\u00e1t tri\u1ec3n<\/span>
                  \n<\/span> \u00a0 \u00a0 \u00a0 <\/span> \u00a0 + V\u00f4 kinh<\/span>
                  \n<\/span>\u00a0 <\/span> \u00a0 + Chi\u1ec1u cao b\u00ecnh th\u01b0\u1eddng ho\u1eb7c g\u1ea7n b\u00ecnh th\u01b0\u1eddng<\/span>
                  \n<\/span> \u00a0 \u2e30 NST X m\u1ea5t nh\u00e1nh ng\u1eafn:<\/span>\u00a0<\/span><\/p>\n

                  \u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0<\/span>+ Tuy\u1ebfn sinh d\u1ee5c kh\u00f4ng ph\u00e1t tri\u1ec3n<\/span>
                  \n<\/span> \u00a0 + V\u00f4 kinh<\/span>
                  \n<\/span> \u00a0 + Chi\u1ec1u cao c\u00f3 th\u1ec3 th\u1ea5p\u00a0<\/span><\/p>\n

                  * <\/span>NST Y<\/span>:<\/span><\/p>\n

                  – \u0110\u1eb7c \u0111i\u1ec3m c\u1ea5u tr\u00fac v\u00e0 ch\u1ee9c n\u0103ng:<\/span><\/p>\n

                    \n
                  • NST t\u00e2m \u0111\u00e2\u0300u, kh\u00f4ng co\u0301 v\u00ea\u0323 tinh<\/span>
                    \n<\/span> \u2022 Ki\u0301ch th\u01b0\u01a1\u0301c nho\u0309<\/span>
                    \n<\/span> \u2022 G\u00f4\u0300m 58 tri\u00ea\u0323u bp (g\u1ea7n 29 gen)<\/span>
                    \n<\/span> \u2022 Gi\u01a1\u0301i ti\u0301nh di truy\u00ea\u0300n cu\u0309a 1 ng\u01b0\u01a1\u0300i do NST Y quy\u00ea\u0301t \u0111i\u0323nh<\/span>
                    \n<\/span> \u2022 \u0110\u0103\u0323c \u0111i\u00ea\u0309m gen tr\u00ean NST:<\/span>
                    \n<\/span> \u00a0 \u00a0 + Co\u0301 gen SRY quy \u0111i\u0323nh bi\u00ea\u0323t ho\u0301a gi\u01a1\u0301i ti\u0301nh<\/span>
                    \n<\/span> \u00a0 \u00a0 + AZFa, AZFb, AZFc qui \u0111i\u0323nh kha\u0309 n\u0103ng sinh tinh<\/span>
                    \n<\/span> \u00a0 \u00a0 + PAR1, PAR2 la\u0300 vu\u0300ng gia\u0309 NST th\u01b0\u01a1\u0300ng va\u0300 n\u0103\u0300m \u01a1\u0309 2 \u0111\u00e2\u0300u NST ch\u01b0\u0301a NST th\u01b0\u01a1\u0300ng.<\/span><\/li>\n<\/ul>\n

                    – H\u1eadu qu\u1ea3 c\u1ee7a \u0111\u1ed9t bi\u1ebfn:<\/span><\/p>\n

                    \u00a0\u00a0\u00a0\u2e30 Chuy\u1ec3n \u0111o\u1ea1n NST X v\u1edbi NST Y ho\u1eb7c v\u1edbi c\u00e1c NST kh\u00e1c bi\u1ec3u hi\u1ec7n ki\u1ec3u h\u00ecnh nam n\u1eef t\u00f9y theo ki\u1ec3u chuy\u1ec3n \u0111o\u1ea1n.<\/span>
                    \n<\/span> \u00a0 \u2e30 M\u1ea5t \u0111o\u1ea1n nh\u00e1nh d\u00e0i NST Y:<\/span><\/p>\n

                    \u00a0<\/span> + C\u00f3 ki\u1ec3u h\u00ecnh nam<\/span>
                    \n<\/span> + Tinh ho\u00e0n c\u00f3 th\u1ec3 ph\u00e1t tri\u1ec3n b\u00ecnh th\u01b0\u1eddng<\/span>
                    \n<\/span> + C\u0169ng c\u00f3 tr\u01b0\u1eddng h\u1ee3p l\u1ed7 \u0111\u00e1i th\u1ea5p, kh\u00f4ng c\u00f3 tinh tr\u00f9ng.<\/span><\/p>\n

                    C, Ph\u00e2n bi\u1ec7t th\u1ec3 barr, v\u1eadt th\u1ec3 d\u00f9i tr\u1ed1ng, v\u1eadt th\u1ec3 Y<\/b><\/p>\n\n\n\n\n
                    Th\u1ec3 barr<\/b><\/td>\nV\u1eadt th\u1ec3 d\u00f9i tr\u1ed1ng<\/b><\/td>\nV\u1eadt th\u1ec3 Y<\/b><\/td>\n<\/tr>\n
                    \u2022 \u0110\u1eb7c tr\u01b0ng cho gi\u1edbi n\u1eef<\/span><\/p>\n

                    \u2022 H\u00ecnh d\u1ea1ng: th\u01b0\u1eddng l\u00e0 kh\u1ed1i h\u00ecnh th\u1ea5u k\u00ednh ph\u1eb3ng l\u1ed3i n\u1eb1m s\u00e1t m\u1eb7t trong c\u1ee7a m\u00e0ng nh\u00e2n, ho\u1eb7c h\u00ecnh n\u00f3n.<\/span><\/p>\n

                    \u2022 Ngu\u1ed3n g\u1ed1c: NST X b\u1ecb b\u1ea5t ho\u1ea1t, s\u1ef1 b\u1ea5t ho\u1ea1t s\u1edbm trong th\u1eddi k\u00ec ph\u00f4i.<\/span><\/p>\n

                    \u2022 C\u00f3 m\u1eb7t \u1edf: N\u1eef b\u00ecnh th\u01b0\u1eddng, nam Klinefelter XXY,XXYY,si\u00eau n\u1eef XXX<\/span><\/td>\n

                    		\u2022 \u0110\u1eb7c tr\u01b0ng cho gi\u1edbi n\u1eef<\/span><\/p>\n

                    \u2022 H\u00ecnh d\u1ea1ng: ph\u1ea7n \u0111\u1ea7u ph\u00ecnh to d\u00ednh v\u00e0o m\u00fai c\u1ee7a nh\u00e2n b\u1ea1ch c\u1ea7u b\u1eb1ng m\u1ed9t cu\u1ed1ng m\u1ea3nh<\/span><\/p>\n

                    \u2022 Ngu\u1ed3n g\u1ed1c: l\u00e0 m\u1ed9t NST X k\u1ebft \u0111\u1eb7c r\u1ea5t m\u1ea1nh l\u00fac gian k\u00ec.<\/span><\/p>\n

                    \u2022 C\u00f3 m\u1eb7t \u1edf: N\u1eef b\u00ecnh th\u01b0\u1eddng<\/span><\/td>\n

                    		\u2022 \u0110\u1eb7c tr\u01b0ng cho gi\u1edbi nam<\/span><\/p>\n

                    \u2022 H\u00ecnh d\u1ea1ng: NST Y r\u1ea5t \u0111a d\u1ea1ng<\/span><\/p>\n

                    \u2022 Ngu\u1ed3n g\u1ed1c: l\u00e0 NST Y<\/span><\/p>\n

                    \u2022 C\u00f3 m\u1eb7t \u1edf :Nam b\u00ecnh th\u01b0\u1eddng, Klinefelter XXY, XYY, XXYY<\/span><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

                     <\/p>\n

                    D, S\u1ef1 b\u1ea5t ho\u1ea1t NST gi\u1edbi t\u00ednh X<\/b><\/p>\n

                    – Gi\u1ea3 thuy\u1ebft c\u1ee7a lyon: 1 trong 2 NST X trong c\u00e1c t\u1ebf b\u00e0o sinh d\u01b0\u1ee1ng \u1edf ng\u01b0\u1eddi n\u1eef \u0111\u00e3 b\u1ecb b\u1ea5t ho\u1ea1t. s\u1ef1 b\u1ea5t ho\u1ea1t 1 trong 2 NST X \u0111\u00e3 x\u1ea3y ra r\u1ea5t s\u1edbm trong th\u1eddi k\u1ef3 ph\u00e1t tri\u1ec3n c\u1ee7a ph\u00f4i c\u1ee7a ng\u01b0\u1eddi n\u1eef v\u00e0 NST X b\u1ecb b\u1ea5t ho\u1ea1t mang t\u00ednh ch\u1ea5t ng\u1eabu nhi\u00ean, \u1edf m\u1ed9t s\u1ed1 t\u1ebf b\u00e0o th\u00ec NST X b\u1ecb b\u1ea5t ho\u1ea1t c\u00f3 ngu\u1ed3n g\u1ed1c t\u1eeb b\u1ed1 v\u00e0 \u1edf c\u00e1c t\u1ebf b\u00e0o kh\u00e1c th\u00ec NST X c\u00f3 ngu\u1ed3n g\u1ed1c t\u1eeb m\u1eb9 b\u1ecb b\u1ea5t ho\u1ea1t. khi hi\u1ec7n t\u01b0\u1ee3ng n\u00e0y x\u1ea3y ra th\u00ec NST \u0111\u00f3 c\u0169ng s\u1ebd b\u1ecb b\u1ea5t ho\u1ea1t trong t\u1ea5t c\u1ea3 c\u00e1c th\u1ebf h\u1ec7 t\u1ebf b\u00e0o sau. Nh\u01b0 v\u1eady hi\u1ec7n t\u01b0\u1ee3ng n\u00e0y v\u1eeba c\u00f3 t\u00ednh ng\u1eabu nhi\u00ean, v\u1eeba c\u00f3 t\u00ednh \u1ed5n \u0111\u1ecbnh.<\/span><\/p>\n

                    – C\u01a1 s\u1edf di truy\u1ec1n ph\u00e2n t\u1eed: S\u1ef1 t\u1ed3n t\u1ea1i c\u1ee7a gen XIST \u1edf v\u00f9ng g\u1ea7n t\u00e2m \u0111\u1ed9ng tr\u00ean NST gi\u1edbi t\u00ednh X. Gen n\u00e0y ch\u1ec9 ho\u1ea1t \u0111\u1ed9ng khi c\u00f3 m\u1eb7t 2 gen XIST tr\u1edf l\u00ean. Gen n\u00e0y t\u1ed5ng h\u1ee3p n\u00ean ph\u00e2n t\u1eed RNA, c\u00e1c ph\u00e2n t\u1eed RNA n\u00e0y<\/span> kh\u00f4ng m\u00e3 h\u00f3a protein, m\u00e0 c\u00f3 kh\u1ea3 n\u0103ng k\u1ebft h\u1ee3p v\u1edbi m\u1ed9t v\u00e0i ph\u1ee9c h\u1ec7 protein \u0111\u1ec3 bao b\u1ecdc ch\u00ednh NST X m\u00e0 t\u1eeb \u0111\u00f3 ch\u00fang \u0111\u01b0\u1ee3c phi\u00ean m\u00e3 ra. \u0110\u1ec3 r\u1ed3i NST X \u0111\u00f3 b\u1ecb c\u00f4 \u0111\u1eb7c l\u1ea1i \u1edf th\u00e0nh t\u1ebf b\u00e0o v\u00e0 b\u1ecb b\u1ea5t ho\u1ea1t. Tr\u00ean th\u1ef1c t\u1ebf th\u00ec RNA n\u00e0y kh\u00f4ng th\u1ec3 bao b\u1ecdc h\u1ebft NST X n\u00ean v\u1eabn c\u00f3 m\u1ed9t s\u1ed1 gen \u1edf g\u1ea7n 2 \u0111\u1ea7u m\u00fat c\u1ee7a NST X v\u1eabn ho\u1ea1t \u0111\u1ed9ng.<\/span><\/p>\n

                    – S\u1ef1 thay \u0111\u1ed5i bi\u1ec3u hi\u1ec7n b\u1ec7nh do gen tr\u1ed9i tr\u00ean NST X: khi \u1edf th\u1ec3 d\u1ecb h\u1ee3p, m\u1ed9t s\u1ed1 t\u1ebf b\u00e0o c\u00f3 gen X mang alen b\u1ec7nh b\u1ecb b\u1ea5t ho\u1ea1t c\u00f2n m\u1ed9t s\u1ed1 t\u1ebf b\u00e0o th\u00ec kh\u00f4ng. \u0110\u1eabn \u0111\u1ebfn \u1edf n\u1eef, s\u1ef1 bi\u1ec3u hi\u1ec7n b\u1ec7nh l\u00e0 \u1edf th\u1ec3 kh\u1ea3m. Trong khi \u1edf nam, n\u1ebfu gen X mang alen b\u1ec7nh th\u00ec bi\u1ec3u hi\u1ec7n ngay ra ki\u1ec3u h\u00ecnh, v\u1eady n\u00ean s\u1ef1 bi\u1ec3u hi\u1ec7n b\u1ec7nh \u1edf n\u1eef s\u1ebd nh\u1eb9 h\u01a1n so v\u1edbi \u1edf nam. S\u1ef1 bi\u1ec3u hi\u1ec7n b\u1ec7nh \u1edf n\u1eef t\u00f9y thu\u1ed9c v\u00e0o s\u1ed1 t\u1ebf b\u00e0o mang NST X c\u00f3 alen g\u00e2y b\u1ec7nh b\u1ecb b\u1ea5t ho\u1ea1t.<\/span><\/p>\n

                    – Hi\u1ec7n t\u01b0\u1ee3ng \u201ch\u1ea7u h\u1ebft c\u00e1 th\u1ec3 trong 1 c\u1eb7p sinh \u0111\u00f4i c\u00f9ng tr\u1ee9ng n\u1eef kh\u00e1c nhau nhi\u1ec1u h\u01a1n c\u1eb7p sinh \u0111\u00f4i c\u00f9ng tr\u1ee9ng nam\u201d l\u00e0 do t\u00ednh ng\u1eabu nhi\u00ean c\u1ee7a s\u1ef1 b\u1ea5t ho\u1ea1t NST X (theo gi\u1ea3 thuy\u1ebft c\u1ee7a lyon). \u1edf c\u1eb7p sinh \u0111\u00f4i c\u00f9ng tr\u1ee9ng n\u1eef, ngo\u00e0i t\u00e1c \u0111\u1ed9ng c\u1ee7a m\u00f4i tr\u01b0\u1eddng, s\u1ef1 kh\u00e1c nhau c\u00f2n \u1edf t\u1ec9 l\u1ec7 NST X ngu\u1ed3n g\u1ed1c t\u1eeb b\u1ed1 v\u00e0 m\u1eb9 b\u1ecb b\u1ea5t ho\u1ea1t tr\u00ean c\u01a1 th\u1ec3.<\/span><\/p>\n

                    C\u00e2u 8<\/b>: S\u1ef1 di truy\u1ec1n c\u00e1c b\u1ec7nh \u0111i\u1ec3n h\u00ecnh<\/b><\/p>\n

                    A, Ph\u00e2n bi\u1ec7t b\u1ec7nh hemophilia A v\u00e0 b\u1ec7nh hemophilia B\u00a0<\/b><\/p>\n

                    * Gi\u1ed1ng nhau: – Tri\u1ec7u ch\u1ee9ng l\u00e2m s\u00e0ng\u00a0<\/span><\/p>\n

                    \u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0– Ph\u01b0\u01a1ng ph\u00e1p ph\u00e1t hi\u1ec7n \u0110B<\/span><\/p>\n

                    \u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0– Quy lu\u1eadt DT\u00a0<\/span><\/p>\n\n\n\n\n\n\n\n\n\n
                    <\/td>\nB\u1ec7nh Hemophilia A(\u01b0a ch\u1ea3y m\u00e1u A)<\/i><\/b><\/td>\nB\u1ec7nh Hemophilia B<\/i><\/b><\/td>\n<\/tr>\n
                    -C\u01a1 s\u1edf DTPT<\/span><\/i><\/td>\n+Gen quy \u0111\u1ecbnh t\u1ed5ng h\u1ee3p y\u1ebfu t\u1ed1 s\u1ed1 VIII n\u1eb1m tr\u00ean nh\u00e1nh d\u00e0i NST X s\u1ebd m\u00e3 h\u00f3a t\u1ed5ng h\u1ee3p ti\u1ec1n y\u1ebfu t\u1ed1 VIII, l\u00e0 m\u1ed9t protein \u1edf tr\u1ea1ng th\u00e1i ko ho\u1ea1t \u0111\u1ed9ng l\u01b0u h\u00e0nh trong m\u00e1u, y\u1ebfu t\u1ed1 s\u1ed1 VIII s\u1ebd tham gia c\u1ea7m m\u00e1u b\u1eb1ng c\u00e1ch c\u1eaft b\u1edbt 1 ph\u1ea7n protein c\u1ee7a ti\u1ec1n y\u1ebfu t\u1ed1 VIII.\u00a0<\/span><\/p>\n

                    + Ng\u01b0\u1eddi b\u1ecb \u0110B gen g\u00e2y thi\u1ebfu ho\u1eb7c ko t\u1ed5ng h\u1ee3p \u0111\u01b0\u1ee3c y\u1ebfu t\u1ed1 s\u1ed1 VIII hay m\u1ea5t ch\u1ee9c n\u0103ng c\u1ee7a y\u1ebfu t\u1ed1 VIII g\u00e2y r\u1ed1i lo\u1ea1n qu\u00e1 tr\u00ecnh \u0111\u00f4ng m\u00e1u.\u00a0<\/span><\/p>\n

                    + Kho\u1ea3ng 10-15% nh\u1eefng b\u1ec7nh nh\u00e2n m\u1eafc b\u1eb9nh Hemophilia A t\u1ed3n t\u1ea1i y\u00eau t\u1ed1 kh\u00e1ng th\u1ec3 kh\u00e1ng y\u00eau t\u1ed1 VIII sau khi sd li\u1ec7u ph\u00e1p \u0111i\u1ec3u tr\u1ecb b\u1ed5 sung y\u1ebfu t\u1ed1 VIII.<\/span><\/td>\n

                    		+ Gen quy \u0111\u1ecbnh y\u1ebfu t\u1ed1 IX n\u1eb1m tr\u00ean nh\u00e1nh d\u00e0i NST X, s\u1ebd t\u1ed5ng h\u1ee3p y\u1ebfu t\u1ed1 IX \u0111\u01b0\u1ee3c l\u01b0u h\u00e0nh trong m\u00e1u d\u01b0\u1edbi d\u1ea1ng ko ho\u1ea1t \u0111\u1ed9ng, khi tham gia v\u00e0o qu\u00e1 tr\u00ecnh \u0111\u00f4ng m\u00e1u, y\u1ebfu t\u1ed1 IX a \u1edf tr\u1ea1ng th\u00e1i ho\u1ea1t \u0111\u1ed9ng -> y\u1ebfu t\u1ed1 Ixa k\u1ebft h\u1ee3p y\u1ebfu t\u1ed1 VIII l\u00e0m bi\u1ebfn \u0111\u1ed5i y\u1ebfu t\u1ed1 X th\u00e0nh y\u1ebfu t\u1ed1 Xa r\u1ed3i tr\u1ea3i qua c\u00e1c ph\u1ea3n \u1ee9ng ti\u1ebfp theo l\u00e0m bi\u1ebfn \u0111\u1ed5i fibrinogen th\u00e0nh fibrin th\u00e0nh ph\u1ea7n ch\u00ednh c\u1ee7a qu\u00e1 tr\u00ecnh \u0111\u00f4ng m\u00e1u.<\/span><\/p>\n

                    + ng\u01b0\u1eddi b\u1ec7nh \u0110B gen quy \u0111\u1ecbnh y\u1ebfu t\u1ed1 IX s\u1ebd t\u1ed5ng h\u1ee3p thi\u1ebfu ho\u1eb7c ko t\u1ed5ng h\u1ee3p y\u1ebfu t\u1ed1 IX ho\u1eb7c t\u1ed5ng h\u1ee3p y\u1ebfu t\u1ed1 IX gi\u1ea3m ho\u1eb7c ko c\u00f3 ch\u1ee9c n\u0103ng g\u00e2y r\u1ed1i lo\u1ea1n qu\u00e1 tr\u00ecnh \u0111\u00f4ng m\u00e1u.<\/span><\/p>\n

                    + C\u00f3 kho\u1ea3ng 50% nh\u1eefng b\u1ec7nh nh\u00e2n m\u1eafc b\u1eb9nh Hemophilia B t\u1ed3n t\u1ea1i y\u00eau t\u1ed1 kh\u00e1ng th\u1ec3 kh\u00e1ng y\u00eau t\u1ed1 IX sau khi sd li\u1ec7u ph\u00e1p \u0111i\u1ec3u tr\u1ecb b\u1ed5 sung y\u1ebfu t\u1ed1 IX.<\/span><\/td>\n<\/tr>\n

                    -C\u00e1c d\u1ea1ng \u0110B<\/span><\/i><\/td>\n+ \u0110B sai ngh\u0129a :\u00a0\u00a0<\/span><\/p>\n

                    \u00a0\u00a0<\/span>\u25aa<\/span>10% n\u1ebfu thay th\u1ebf arginin b\u1eb1ng glutamin -> b\u1ec7nh th\u1ec3 nh\u1eb9<\/span><\/p>\n

                    \u00a0\u00a0<\/span>\u25aa<\/span>N\u1ebfu a.a b\u1ecb thay th\u1ebf th\u00e0nh m\u00e3 k\u1ebft th\u00fac -> th\u1ec3 n\u1eb7ng<\/span><\/p>\n

                    \u00a0\u00a0+ Th\u00eam nucleotid : 6%\u00a0<\/span><\/p>\n

                    \u00a0\u00a0+ M\u1ea5t nucleotid: 29%<\/span><\/p>\n

                    \u00a0\u00a0+ \u0110B \u1edf v\u1ecb tr\u00ed n\u1ed1i: 7%<\/span><\/p>\n

                    \u00a0\u00a0+ \u0110B \u0111\u1ea3o \u0111o\u1ea1n: 48%<\/span><\/td>\n

                    		+ \u0110B t\u1ea1i exon s\u1ed1 8<\/span><\/p>\n

                    + Thay th\u1ebf a.amin<\/span><\/p>\n

                    + Th\u00eam ho\u1eb7c m\u1ea5t v\u00e0i c\u1eb7p nu<\/span><\/p>\n

                    + Khuy\u1ebft \u0111o\u1ea1n l\u1edbn ho\u1eb7c nh\u00e2n \u0111o\u1ea1n<\/span><\/td>\n<\/tr>\n

                    Quy lu\u1eadt DT<\/span><\/i><\/td>\nL\u1eb7n NST X, ch\u1ee7 y\u1ebfu g\u1eb7p \u1edf nam, r\u1ea5t hi\u1ebfm g\u1eb7p \u1edf n\u1eef. Theo 2 c\u01a1 ch\u1ebf sau:<\/span><\/p>\n

                    \u00a0+ Gen \u0110B c\u00f3 s\u1eb5n tr\u00ean NST X c\u1ee7a m\u1eb9 truy\u1ec1n cho con trai ( g\u00e1i)<\/span><\/p>\n

                    \u00a0+ \u0110B ms ph\u00e1t sinh trong qu\u00e1 tr\u00ecnh t\u1ea1o giao t\u1eed c\u1ee7a b\u1ed1 v\u00e0 m\u1eb9<\/span><\/td>\n<\/tr>\n

                    -Tri\u1ec7u ch\u1ee9ng l\u00e2m s\u00e0ng:<\/span><\/i><\/td>\n+ Ch\u1ea3y m\u00e1u k\u00e9o d\u00e0i ngay c\u1ea3 khi c\u00f3 ch\u1ea5n th\u01b0\u01a1ng r\u1ea5t nh\u1eb9 ho\u1eb7c sau ph\u1eabu thu\u1eadt.<\/span><\/p>\n

                    + C\u00f3 th\u1ec3 xu\u1ea5t huy\u1ebft vs nh\u01b0ng \u0111\u1eb7c t\u00ednh ch\u1ee7 y\u1ebfu l\u00e0: b\u1ea7m t\u00edm \u1edf da, c\u00f3 c\u00e1c b\u1ecdc m\u00e1u xu\u1ea5t huy\u1ebft \u1edf ni\u00eam m\u1ea1c, tr\u00e0n m\u00e1u kh\u1edbp.<\/span><\/p>\n

                    + B\u1ec7nh c\u00f3 t\u00ednh ch\u1ea5t gia \u0111\u00ecnh chi\u1ebfm 2\/3 , c\u00f2n th\u01b0\u1eddng 1\/3 do \u0110B ms<\/span><\/p>\n

                    + X\u00e9t nghi\u1ec7m: tgian ch\u1ea3y m\u00e1u k\u00e9o d\u00e0i, tgian \u0111\u00f4ng m\u00e1u k\u00e9o d\u00e0i c\u00f3 th\u1ec3 h\u01a1n 1<\/span>h\u00a0 <\/span>, ch\u1ea5t l\u01b0\u1ee3ng c\u1ee5c m\u00e1u \u0111\u00f4ng k\u00e9m,… \u0111\u1ecbnh l\u01b0\u1ee3ng y\u1ebfu t\u1ed1 VIII gi\u1ea3m ho\u1eb7c kh\u00f4ng c\u00f3. X\u00e9t nghi\u1ec7m ADN ph\u00e1t hi\u1ec7n \u0110BG<\/span><\/p>\n

                    CH\u00da \u00dd<\/i><\/b>: HEMOPHLIA B NH\u1eb8 H\u01a0N A<\/span><\/td>\n<\/tr>\n

                    -pp ph\u00e1t hi\u1ec7n \u0110B<\/span><\/i><\/td>\n+ Ph\u01b0\u01a1ng ph\u00e1p southern blot, ph\u01b0\u01a1ng ph\u00e1p \u0111a h\u00ecnh AND, ph\u01b0\u01a1ng ph\u00e1p ph\u00e2n t\u00edch tr\u00ecnh t\u1ef1 gen, multiplex PCR<\/span><\/td>\n<\/tr>\n
                    -Kh\u1ea3 n\u0103ng \u0111i\u1ec1u tr\u1ecb b\u1ec7nh v\u00e0 ph\u00f2ng b\u1ec7nh<\/span><\/i><\/td>\n– Truy\u1ec1n huy\u1ebft t\u01b0\u01a1ng ho\u1eb7c y\u1ebfu t\u1ed1 VIII(A) v\u00e0 IX(B), \u0111i\u1ec1u tr\u1ecb ph\u1ee5c h\u1ed3i ch\u1ee9c n\u0103ng kh\u1edbp , Gene therapy\u2026<\/span><\/p>\n

                    – Tuy\u00ean truy\u1ec1n gi\u00e1o d\u1ee5c v\u1ec1 b\u1ec7nh, s\u00e0ng l\u1ecdc b\u1ec7nh; theo d\u00f5i t\u01b0 v\u1ea5n di truy\u1ec1n, chu\u1ea9n \u0111o\u00e1n tr\u01b0\u1edbc sinh.<\/span><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

                     <\/p>\n

                    B, Ph\u00e2n bi\u1ec7t thalassemia alpha v\u00e0 thalassemia beta<\/b><\/p>\n

                    – <\/span><\/i>C\u01a1 s\u1edf DT<\/span>:\u00a0<\/span><\/i><\/p>\n

                    \u00a0\u00a0\u00a0+H\u1ed3ng c\u1ea7u ng\u01b0\u1eddi b\u00ecnh th\u01b0\u1eddng c\u00f3 c\u00e1c lo\u1ea1i Hb: HbA = 97,5% , HbA2= 2%, HbF = 0,5%.\u00a0 \u0110\u1ec3 c\u00f3 th\u1ec3 ho\u1ea1t \u0111\u1ed9ng b\u00ecnh th\u01b0\u1eddng th\u00ec HbA c\u1ea7n t\u1ea1o chu\u1ed7i \u03b1- protein v\u00e0\u00a0 \u03b2- protein .\u00a0<\/span><\/p>\n

                    \u00a0\u00a0\u00a0+\u1ede ng\u01b0\u1eddi b\u00ecnh th\u01b0\u1eddng c\u00f3 4 gen quy \u0111\u1ecbnh t\u1ed5g h\u1ee3p c\u00e1c chu\u1ed7i \u03b1 (NST 16)v\u00e0 \u03b2 (NST 11.)\u00a0<\/span><\/p>\n

                    \u00a0\u00a0\u00a0\u00a0\u00a0\u00a0<\/span>\u25aa<\/span> Khi c\u00e1c gen ho\u1ea1t \u0111\u1ed9ng b\u00ecnh th\u01b0\u1eddng th\u00ec chu\u1ed7i \u03b1- globin b\u00e0 \u03b2- globin \u0111\u01b0\u1ee3c s\u1ea3n xu\u1ea5t c\u00e2n b\u1eb1ng \u0111\u1ec3 tham gia c\u1ea5u tr\u00fac t\u1ea1o ph\u1ee9c h\u1ee3p \u03b1<\/span>2<\/span>\u03b2<\/span>2<\/span>.\u00a0<\/span><\/p>\n

                    \u00a0\u00a0\u00a0\u00a0\u00a0<\/span>\u25aa<\/span>Khi c\u00e1c gen t\u1ed5ng h\u1ee3p chu\u1ed7i \u03b1 globin hay \u03b2 globin b\u1ecb \u0110B l\u00e0m h\u00e0m l\u01b0\u1ee3ng 2 chu\u1ed7i n\u00e0y gi\u1ea3m ho\u1eb7c kh\u00f4ng \u0111\u01b0\u1ee3c t\u1ea1o th\u00e0nh -> b\u1ec7nh thalassemia<\/span><\/p>\n

                    – Quy lu\u1eadt DT: theo quy lu\u1eadt alen l\u1eb7n tr\u00ean NST th\u01b0\u1eddng<\/span><\/p>\n

                    -T\u1ebf b\u00e0o m\u00e1u gi\u1ea3m th\u1ec3 t\u00edch g\u00e2y thi\u1ebfu m\u00e1u<\/span><\/p>\n\n\n\n\n\n\n\n\n
                    <\/td>\n\u03b1- thalassemia<\/b><\/td>\n\u03b2 \u2013 thalassemia<\/b><\/td>\n<\/tr>\n
                    Nguy\u00ean nh\u00e2n<\/span><\/i><\/td>\n-Trao \u0111\u1ed5i ch\u00e9o kh\u00f4ng c\u00e2n -> m\u1ea5t 1 gen \u03b1<\/span><\/p>\n

                    -Khuy\u1ebft \u0111o\u1ea1n l\u1edbn tr\u00ean NST s\u1ed1 16\u00a0 \u00a0 \u00a0 \u00a0 -> m\u1ea5t 2 gen \u03b1<\/span><\/p>\n

                    – Nh\u1eefng \u0110B v\u00f4 ngh\u0129a ho\u1eb7c \u0110B d\u1ecbch khung-> kh\u00f4ng t\u1ed5ng h\u1ee3p ho\u1eb7c t\u1ed5ng h\u1ee3p gi\u1ea3m chu\u1ed7i \u03b1<\/span><\/p>\n

                    -\u0110\u1ed9t bi\u1ebfn gen tr\u00ean NST 16<\/b><\/td>\n

                    		– Do \u0111\u1ed9t bi\u1ebfn gen l\u00e0m gi\u1ea3m or m\u1ea5t ch\u1ee9c n\u0103ng c\u1ee7a gen \u03b2 ->\u00a0 Gi\u1ea3m or ko t\u1ed5ng h\u1ee3p \u0111\u01b0\u1ee3c chu\u1ed7i \u03b2- globin.<\/span><\/p>\n

                    -\u0110bi\u1ebfn \u0111i\u1ec3m t\u1ea1i Promoter<\/span><\/p>\n

                    -\u0110b v\u00f4 ngh\u0129a -> m\u00e3 kth\u00fac xu\u1ea5t hi\u1ec7n s\u1edbm<\/span><\/p>\n

                    -\u0110b t\u1ea1i nh\u1eefng d\u1ea5u hi\u1ec7u n\u1ed1i, \u0111b trong exon<\/span><\/p>\n

                    -\u0110b \u0111i\u1ec3m t\u1ea1i v\u1ecb tr\u00ed g\u1eafn chu\u1ed7i poli A<\/span><\/p>\n

                    -\u0110\u1ed9t bi\u1ebfn gen \u03b2 Globin tr\u00ean NST 11<\/b><\/td>\n<\/tr>\n

                    C\u01a1 ch\u1ebf sinh b\u1ec7nh<\/span><\/i><\/td>\n-Thi\u1ebfu h\u1ee5t ho\u1eb7c thi\u1ebfu ho\u00e0n to\u00e0n kh\u00f4ng c\u00f3 chu\u1ed7i \u03b1 trong ph\u00e2n t\u1eed Hb<\/span><\/p>\n

                    -\u03b1 glo b\u1ecb thi\u1ebfu h\u1ee5t, ch\u1ec9 \u0111c t\u1ed5ng h\u1ee3p vs l\u01b0\u1ee3ng nh\u1ecf, \u03b2 \u0111\u01b0\u1ee3c t\u1ed5ng h\u1ee3p b\u00ecnh th\u01b0\u1eddng -> t\u1ea1o 1 l\u01b0\u1ee3ng nh\u1ecf \u03b1<\/span>2<\/span>\u03b2<\/span>2<\/span><\/p>\n

                    -C\u00f3 s\u1ef1 t\u1ed5ng h\u1ee3p \u03b2 qu\u00e1 m\u1ee9c -> Hb \u0111\u1ed3ng nh\u1ea5t ch\u1ec9 c\u00f3 chu\u1ed7i \u03b2(HbH(\u03b24)<\/span><\/p>\n

                    – Ng\u01b0\u1eddi b\u1ec7nh \u03b1- thalassemia trong TB m\u00e1u ch\u1ee9a HbH -> nh\u1eefng th\u1ec3 b\u1ea5t th\u01b0\u1eddng trong h\u1ed3ng c\u1ea7u -> g\u1ea3im \u0111\u00e1ng k\u1ec3 kh\u1ea3 n\u0103ng v\u1eadn chuy\u1ec3n oxy<\/span><\/td>\n

                    		 -\u0110b l\u00e0m gi\u1ea3m, kh\u00f4ng t\u1ed5ng h\u1ee3p \u0111\u01b0\u1ee3c chu\u1ed7i \u03b2-globin<\/span><\/p>\n

                    -Chu\u1ed7i \u03b2 b\u1ecb thi\u1ebfu h\u1ee5t, chu\u1ed7i \u03b1 globin \u0111\u01b0\u1ee3c sx qu\u00e1 m\u1ee9c->d\u1ea1ng ph\u1ee9c h\u1ee3p Hb \u0111\u1ed3ng nh\u1ea5t ch\u1ec9 c\u00f3 1 lo\u1ea1i chu\u1ed7i\u00a0 \u03b1(\u03b1 4), nh\u1eefng Hb \u1edf d\u1ea1ng ko h\u00f2a tan v\u00e0 k\u1ebft t\u1ee7a trong nhi\u1ec1u tb m\u00e1u d\u1eabn t\u1edbi b\u1ecb ph\u00e1 h\u1ee7y \u1edf t\u1ee7y x\u01b0\u01a1ng ho\u1eb7c l\u00e1 l\u00e1ch. Nh\u1eefng tb h\u1ed3ng c\u1ea7u b\u1ecb g\u1ea3m k\u00edch th\u01b0\u1edbc v\u00e0 s\u1ed1 l\u01b0\u1ee3ng.<\/span><\/p>\n

                    -\u0110b gen d\u1eabn \u0111\u1ebfn: gi\u1ea3m t\u1ed5ng h\u1ee3p \u03b2 t\u0103ng t\u1ed5ng h\u1ee3p \u03b1\u00a0 v\u00e0 \u03b3 \u0111\u1ec3 t\u1ea1o th\u00e0nh HbF; t\u0103ng t\u1ed5ng h\u1ee3p chu\u1ed7i \u03b4 \u0111\u1ec3 t\u1ea1o th\u00e0nh HbA2 => nhi\u1ec1u HbF , HbA2 h\u01a1n ng\u01b0\u1eddi bt.<\/span><\/td>\n<\/tr>\n

                    C\u00e1c th\u1ec3 b\u1ec7nh<\/span><\/i><\/td>\n-Trong 4 alen c\u00f3:<\/span><\/p>\n

                    \u00a0+1 alen kh\u00f4g h.\u0111\u1ed9ng (\u03b1\u03b1\/\u03b1- ; \u03b1-\/\u03b1\u03b1 ): \u03b1 thalassemia 2<\/span><\/p>\n

                    \u00a0+ 2 alen kh\u00f4ng h.\u0111\u1ed9ng (\u03b1\u03b1\/–,\u03b1-\/\u03b1-) : \u03b1 thalassemia 1( th\u1ec3 nh\u1eb9)<\/span><\/p>\n

                    \u00a0+ 3 alen kh\u00f4ng ho\u1ea1t \u0111\u1ed9ng: (\u03b1-\/–)<\/span><\/p>\n

                    \u00a0+ 4 alen kh\u00f4ng ho\u1ea1t \u0111\u1ed9ng: (–\/–)\u00a0 kh\u00f4ng c\u00f3 kh\u1ea3 n\u0103ng v\u1eadn chuy\u1ec3n oxy -> ph\u00f9 b\u00e0o thai-> ch\u1ebft \u1edf giai \u0111o\u1ea1n b\u00e0o thai ho\u1eb7c m\u1edbi sinh ra<\/span><\/td>\n

                    		 -B\u1ec7nh \u03b2- thalassemia th\u1ec3 nh\u1eb9<\/span><\/p>\n

                    – B\u1ec7nh \u03b2- thalassemia th\u1ec3 trung gian<\/span><\/p>\n

                    – B\u1ec7nh \u03b2- thalassemia th\u1ec3 n\u1eb7ng<\/span><\/p>\n

                    – B\u1ec7nh \u03b2- thalassemia th\u1ec3 ph\u1ed1i h\u1ee3p HbE<\/span><\/td>\n<\/tr>\n

                    \u0110i\u1ec1u tr\u1ecb v\u00e0 ti\u00ean l\u01b0\u1ee3ng<\/span><\/i><\/td>\n-Truy\u1ec1n m\u00e1u + k\u1ebft h\u1ee3p thu\u1ed1c<\/span><\/p>\n

                    -Li\u1ec7u ph\u00e1p gen<\/span><\/td>\n

                    		-S\u1ed1ng nh\u1ecf h\u01a1n 25 tu\u1ed5i<\/span><\/p>\n

                    -Tu\u1ed5i th\u1ecd gi\u1ea3m<\/span><\/td>\n<\/tr>\n

                    Ph\u00f2ng b\u1ec7nh<\/span><\/i><\/td>\n-H\u1ea1n ch\u1ebf t\u1ed1i thi\u1ec3u sinh ra con m\u1eafc b\u1ec7nh<\/span><\/p>\n

                    \u00a0\u00a0\u00a0+ T\u01b0 v\u1ea5n DT tr\u01b0\u1edbc h\u00f4n nh\u00e2n-> ph\u00e1t hi\u1ec7n ng\u01b0\u1eddi d\u1ecb h\u1ee3p-> khuy\u00ean \u0111\u1ec3 h\u1ea1n ch\u1ebf sinh con \u0111\u1ed3ng h\u1ee3p t\u1eed l\u1eb7n<\/span><\/p>\n

                    \u00a0\u00a0\u00a0+ Ch\u1ea9n \u0111o\u00e1n tr\u01b0\u1edbc sinh- sinh thi\u1ebft tua nhua thai<\/span><\/td>\n

                    		<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

                     <\/p>\n

                    C, So s\u00e1nh h\u1ed9i ch\u1ee9ng patau, h\u1ed9i ch\u1ee9ng edwards v\u00e0 h\u1ed9i ch\u1ee9ng down<\/b><\/p>\n

                    * Gi\u1ed1ng nhau:<\/span><\/p>\n

                    – Nguy\u00ean nh\u00e2n: Tu\u1ed5i m\u1eb9 \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn t\u1ea7n s\u1ed1 sinh con m\u1eafc b\u1ec7nh<\/span><\/p>\n

                    – B\u1ed9 NST \u0111\u1ec1u c\u00f3 47 NST \u2013 th\u1ec3 ba nhi\u1ec5m \u1edf NST th\u01b0\u1eddng<\/span><\/p>\n

                    – Tri\u1ec7u ch\u1ee9ng l\u00e2m s\u00e0ng: Th\u01b0\u1eddng b\u1ecb d\u1ecb t\u1eadt \u1edf tim *kh\u00e1c nhau<\/span><\/p>\n

                    * Kh\u00e1c nhau:<\/span><\/p>\n\n\n\n\n\n\n\n\n\n\n\n
                    \u0110\u1eb7c \u0111i\u1ec3m<\/b><\/td>\nDown<\/b><\/td>\nPatau<\/b><\/td>\nEdwards<\/b><\/td>\n<\/tr>\n
                    T\u1ea7n s\u1ed1<\/b><\/td>\n1\/700 \u2013 1\/800<\/span><\/td>\n1\/5000 \u2013 1\/10000<\/span><\/td>\n1\/4000 \u2013 1\/8000<\/span><\/td>\n<\/tr>\n
                    T\u1ec9 l\u1ec7 gi\u1edbi t\u00ednh<\/b><\/td>\n3 nam:2 n\u1eef<\/span><\/td>\nN\u1eef m\u1eafc nhi\u1ec1u h\u01a1n nam<\/span><\/td>\n3 n\u1eef:1nam<\/span><\/td>\n<\/tr>\n
                    B\u1ed9 NST<\/b><\/td>\n3 NST s\u1ed1 21<\/span><\/td>\n3 NST s\u1ed1 13<\/span><\/td>\n3 NST s\u1ed1 18<\/span><\/td>\n<\/tr>\n
                    G\u00f3c atd<\/b><\/td>\n45<atd<60<\/span><\/td>\n90<atd<120<\/span><\/td>\n60<atd<90<\/span><\/td>\n<\/tr>\n
                    Th\u1eddi gian s\u1ed1ng<\/b><\/td>\nNh\u1ecf h\u01a1n 40 tu\u1ed5i ( d\u1ea1ng kh\u1ea3m bi\u1ec3u hi\u1ec7n kh\u00f4ng qu\u00e1 n\u1eb7ng n\u1ec1)<\/span><\/td>\nKh\u00f4ng qu\u00e1 1 tu\u1ed5i<\/span><\/td>\nCh\u1ebft ngay sau khi sinh ho\u1eb7c s\u1ed1ng trung b\u00ecnh 10 tu\u1ea7n<\/span><\/td>\n<\/tr>\n
                    Tu\u1ed5i b\u1ed1<\/b><\/td>\nC\u00f3 \u1ea3nh h\u01b0\u1edfng\u00a0<\/span><\/td>\nKh\u00f4ng \u1ea3nh h\u01b0\u1edfng<\/span><\/td>\nC\u00f3 \u1ea3nh h\u01b0\u1edfng<\/span><\/td>\n<\/tr>\n
                    B\u1ec7nh t\u1eadt k\u00e8m theo<\/b><\/td>\nTh\u01b0\u1eddng g\u1eb7p l\u00e0 d\u1ecb t\u1eadt tim, \u1ed1ng ti\u00eau h\u00f3a<\/span><\/p>\n

                    D\u1ec5 m\u1eafc ung th\u01b0 m\u00e1u<\/span><\/td>\n

                    		Th\u01b0\u1eddng c\u00f3 d\u1ecb t\u1eadt \u1edf tim, \u1ed1ng ti\u00eau h\u00f3a<\/span><\/td>\nTh\u01b0\u1eddng c\u00f3 d\u1ecb t\u1eadt \u1edf tim, c\u01a1 quan sinh d\u1ee5c, tho\u00e1t v\u1ecb r\u1ed1n<\/span><\/td>\n<\/tr>\n
                    Tri\u1ec7u ch\u1ee9ng l\u00e2m s\u00e0ng<\/b><\/td>\n-\u0110\u1ea7u nh\u1ecf, ng\u1eafn, m\u1eb7t tr\u00f2n, g\u1ed1c m\u0169i t\u1eb9t, khe m\u1eaft x\u1ebfch, n\u1ebfp qu\u1ea1t, kh\u1ea9u c\u00e1i h\u1eb9p, v\u00f2m cung cao, l\u01b0\u1ee1i to v\u00e0 d\u1ea7y hay n\u1ee9t n\u1ebb, th\u00e8 ra ngo\u00e0i<\/span><\/p>\n

                    -Tai nh\u1ecf c\u00f3 khi bi\u1ebfn d\u1ea1ng,v\u00ed tr\u1ecb th\u1ea5p<\/span><\/p>\n

                    -C\u1ed5 ng\u1eafn, g\u00e1y ph\u1eb3ng r\u1ed9ng<\/span><\/p>\n

                    -B\u00e0n tay r\u1ed9ng, c\u00e1c ng\u00f3n ng\u1eafn<\/span><\/p>\n

                    -Ch\u1eadm ph\u00e1t tri\u1ec3n tr\u00ed tu\u1ec7, ch\u1ec9 s\u1ed1 IQ trung b\u00ecnh 30-50<\/span><\/p>\n

                    -Giarm tr\u01b0\u01a1ng l\u1ef1c c\u01a1 v\u00e0 nh\u00e3n d\u00e2y ch\u1eb1ng<\/span><\/p>\n

                    -N\u1ebfp v\u00e2n da b\u00e0n tay: n\u1ebfp ngang duy nh\u1ea5t \u1edf l\u00f2ng b\u00e0n tay, c\u00f3 th\u1ec3 g\u1eb7p \u1edf 1 ho\u1eb7c 2 b\u00e0n tay. Ch\u1ea0c ba tr\u1ee5c \u1edf v\u1ecb tr\u00ed cao th\u01b0\u1eddng g\u1eb7p \u1edf v\u1ecb tr\u00ed t\u2019\u2019. T\u1ea7n s\u1ed1 hoa v\u0103n \u1edf m\u00f4 \u00fat t\u0103ng<\/span><\/p>\n

                    – 92%: th\u1ec3 3 nhi\u1ec5m thu\u1ea7n<\/span><\/p>\n

                    – 2-3%: th\u1ec3 kh\u1ea3m v\u1edbi 2 d\u00f2ng t\u1ebf b\u00e0o<\/span><\/p>\n

                    -4-5%: th\u1ec3 chuy\u1ec3n \u0111o\u1ea1n<\/span><\/td>\n

                    		-\u0110\u1ea7u nh\u1ecf, nh\u00e3n c\u1ea7u nh\u1ecf hay kh\u00f4ng c\u00f3 nh\u00e3n c\u1ea7u, t\u1ea1i \u1edf v\u00ed tr\u00ed th\u1ea5p v\u00e0 bi\u1ebfn d\u1ea1ng<\/span><\/p>\n

                    -Th\u01b0\u1eddng b\u1ecb \u0111i\u1ebfc, th\u01b0\u1eddng b\u1ecb s\u1ee9t m\u00f4i 2 b\u00ean, c\u00f3 th\u1ec3 n\u1ee9t kh\u1ea9u c\u00e1i<\/span><\/p>\n

                    – \u0110\u00f4i khi b\u00e0n ch\u00e2n v\u1eb9o, ng\u00f3n \u1edf b\u00e0n tay ho\u1eb7c b\u00e0n ch\u00e2n<\/span><\/p>\n

                    -T\u00e2m th\u1ea7n, v\u1eadn \u0111\u1ed9ng k\u00e9m ph\u00e1t tri\u1ec3n<\/span><\/p>\n

                    – N\u1ebfp v\u00e2n da th\u01b0\u1eddng c\u00f3 n\u1ebfp ngang \u0111\u01a1n \u0111\u1ed9c, ch\u1ea1c ba tr\u1ee5c \u1edf v\u1ecb tr\u00ed t\u2019\u2019<\/span><\/p>\n

                    – B\u1ea1ch c\u1ea7u \u0111a nh\u00e2n trung t\u00ednh c\u00f3 nhi\u1ec1u ph\u1ea7n ph\u1ee5 l\u1ed3i ra c\u00f3 cu\u1ed1ng ho\u1eb7c kh\u00f4ng c\u00f3 cu\u1ed1ng<\/span><\/p>\n

                    – 80%: th\u1ec3 3 nhi\u1ec5m thu\u1ea7n<\/span><\/p>\n

                    -20%: kh\u1ea3m<\/span><\/td>\n

                    		-Nh\u1eb9 c\u00e2n, \u0111\u1ebb non, tr\u00e1n b\u1ef1, s\u1ecd d\u00e0i v\u00e0 to, khe m\u1eaft h\u1eb9p, tai \u1edf v\u1ecb tr\u00ed th\u1ea5p, \u00edt qu\u0103n v\u00e0 nh\u1ecdn n\u00ean tr\u00f4ng gi\u1ed1ng nh\u01b0 tai ch\u1ed3n, mi\u1ec7ng b\u00e9, h\u00e0m nh\u1ecf v\u00e0 d\u00e0i ra sau<\/span><\/p>\n

                    -B\u00e0n tay: ng\u00f3n c\u00e1i qu\u1eb7p v\u00e0o l\u00f2ng b\u00e0n tay, b\u00e0n tay n\u1eafm l\u1ea1i, ng\u00f3n tr\u1ecf tr\u00f9m l\u00ean ng\u00f3n nh\u1eabn, b\u00e0n ch\u00e2n v\u1eb9o<\/span><\/p>\n

                    -N\u1ebfp v\u00e2n da r\u1ea5t \u0111\u1eb7c bi\u1ec7t, t\u1ea7n s\u1ed1 v\u00e2n cung cao \u1edf \u0111\u1ea7u ng\u00f3n tay(\u00a0 7-10 ng\u00f3n). Th\u01b0\u1eddng c\u00f3 n\u1ebfp ngang \u0111\u01a1n \u0111\u1ed9c, ch\u1ea1c ba tr\u1ee5c th\u01b0\u1eddng \u1edf v\u1ecb tr\u00ed t\u2019 ho\u1eb7c t\u2019\u2019<\/span><\/p>\n

                    -80%: th\u1ec3 3 nhi\u1ec5m thu\u1ea7n<\/span><\/p>\n

                    – 10%: th\u1ec3 kh\u1ea3m<\/span><\/p>\n

                    – 10%: th\u1ec3 chuy\u1ec3n \u0111o\u1ea1n, th\u1ec3 ba nhi\u1ec5m k\u00e9p(2n +1+1)<\/span><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

                     <\/p>\n

                    D, H\u1ed9i ch\u1ee9ng down<\/b><\/p>\n

                    * Trisomy 21<\/span><\/p>\n

                    – Nguy\u00ean nh\u00e2n: B\u00ean c\u1ea1nh t\u00e1c nh\u00e2n m\u00f4i tr\u01b0\u1eddng th\u00ec tu\u1ed5i c\u1ee7a m\u1eb9 c\u0169ng c\u00f3 vai tr\u00f2 quan tr\u1ecdng. tu\u1ed5i m\u1eb9 c\u00e0ng l\u1edbn th\u00ec t\u1ea7n s\u1ed1 con sinh ra m\u1eafc b\u1ec7nh c\u00e0ng cao.<\/span>
                    \n<\/span>\u2013 C\u01a1 ch\u1ebf: do r\u1ed1i lo\u1ea1n trong gi\u1ea3m ph\u00e2n l\u00e0m cho c\u1eb7p NST s\u1ed1 21 c\u1ee7a b\u1ed1 ho\u1eb7c m\u1eb9 kh\u00f4ng ph\u00e2n ly t\u1ea1o ra m\u1ed9t giao t\u1eed kh\u00f4ng mang NST s\u1ed1 21 V\u00e0 m\u1ed9t giao t\u1eed mang 2 NST s\u1ed1 21-> giao t\u1eed mang 2 NST s\u1ed1 21 n\u00e0y th\u1ee5 tinh v\u1edbi giao t\u1eed b\u00ecnh th\u01b0\u1eddng t\u1ea1o ra h\u1ee3p t\u1eed mang 3 NST s\u1ed1 21, 2n=47<\/span>
                    \n<\/span>\u2013 H\u1eadu qu\u1ea3: <\/span><\/p>\n

                    + V\u00f4 sinh<\/span>
                    \n<\/span>+ \u0110\u1ea7u nh\u1ecf, m\u1eb7t tr\u00f2n, m\u1eaft x\u1ebfch, m\u00f4i n\u1ee9t,l\u01b0\u1ee1i th\u00e8 ra kh\u1ecfi mi\u1ec7ng, tai nh\u1ecf, c\u1ed5 ng\u1eafn, \u00e1y ph\u1eb3ng r\u1ed9ng, ng\u00f3n tay ng\u1eafn<\/span>
                    \n<\/span>+ Cao kh\u00f4ng qu\u00e1 1m50, tr\u00ed \u00f3c gi\u1ea3m<\/span>
                    \n<\/span>+ C\u00f3 th\u1ec3 s\u1ed1ng \u0111\u1ebfn 40 tu\u1ed5i<\/span><\/p>\n

                    * Chuy\u1ec3n \u0111o\u1ea1n c\u00e2n b\u1eb1ng t\u1ea1o ra con c\u00e1i b\u1ecb down: x\u1ea3y ra khi c\u00f3 chuy\u1ec3n do\u1ea1n robertson k\u1ebft qu\u1ea3 t\u1ea1o b\u1ed1 ho\u1eb7c m\u1eb9 monosomy kh\u00f4ng thu\u1ea7n, ch\u1ec9 c\u00f3 1 NST 21 nh\u01b0ng mang h\u1ec7 gen c\u1ee7a c\u1ea3 c\u1eb7p NST n\u00e0y. Khi c\u01a1 th\u1ec3 n\u00e0y gi\u1ea3m ph\u00e2n k\u1ebft h\u1ee3p v\u1edbi m\u1ed9t giao t\u1eed b\u00ecnh th\u01b0\u1eddng sinh ra \u0111\u1eddi con trisomy 21 b\u1ecb down.<\/span><\/p>\n

                    * <\/span>H\u1ed9i ch\u1ee9ng Down kh\u1ea3m: Lo\u1ea1i n\u00e0y \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn kho\u1ea3ng 2% s\u1ed1 ng\u01b0\u1eddi m\u1eafc h\u1ed9i ch\u1ee9ng Down. \u0110\u1ed1i v\u1edbi tr\u1ebb m\u1eafc h\u1ed9i ch\u1ee9ng Down th\u1ec3 kh\u1ea3m, m\u1ed9t s\u1ed1 t\u1ebf b\u00e0o c\u1ee7a ch\u00fang c\u00f3 3 b\u1ea3n sao c\u1ee7a nhi\u1ec5m s\u1eafc th\u1ec3 21, nh\u01b0ng m\u1ed9t s\u1ed1 t\u1ebf b\u00e0o kh\u00e1c l\u1ea1i c\u00f3 2 b\u1ea3n sao \u0111i\u1ec3n h\u00ecnh c\u1ee7a nhi\u1ec5m s\u1eafc th\u1ec3 21. Tr\u1ebb b\u1ecb h\u1ed9i ch\u1ee9ng Down th\u1ec3 kh\u1ea3m c\u00f3 th\u1ec3 c\u00f3 c\u00e1c \u0111\u1eb7c \u0111i\u1ec3m gi\u1ed1ng nh\u01b0 nh\u1eefng tr\u1ebb kh\u00e1c b\u1ecb h\u1ed9i ch\u1ee9ng Down<\/span>. <\/span>T\u00f9y v\u00e0o t\u1ec9 l\u1ec7 t\u1ebf b\u00e0o b\u00ecnh th\u01b0\u1eddng v\u00e0 \u0111\u1ed9t bi\u1ebfn m\u00e0 m\u1ee9c \u0111\u1ed9 bi\u1ec3u hi\u1ec7n b\u1ec7nh l\u00e0 kh\u00e1c nhau.<\/span><\/p>\n

                    E, C\u00e1c h\u1ed9i ch\u1ee9ng XO, XXY<\/b><\/p>\n

                      \n
                    • H\u1ed9i ch\u1ee9ng XO:<\/span><\/li>\n<\/ul>\n

                      \u2013 C\u01a1 ch\u1ebf: r\u1ed1i lo\u1ea1n gi\u1ea3m ph\u00e2n l\u00e0m cho c\u1eb7p NST gi\u1edbi t\u00ednh c\u1ee7a b\u1ed1 ho\u1eb7c m\u1eb9 kh\u00f4ng ph\u00e2n ly t\u1ea1o ra giao t\u1eed kh\u00f4ng mang NST gi\u1edbi t\u00ednh-> giao t\u1eed n\u00e0y k\u1ebft h\u1ee3p v\u1edbi giao t\u1eed b\u00ecnh th\u01b0\u1eddng mang 1 NST X t\u1ea1o th\u00e0nh h\u1ee3p t\u1eed c\u00f3 c\u1eb7p NST gi\u1edbi t\u00ednh l\u00e0 XO<\/span>
                      \n<\/span>\u2013 H\u1eadu qu\u1ea3: <\/span><\/p>\n

                      \u00a0+ V\u00f4 sinh, kh\u00f4ng c\u00f3 v\u1eadt th\u1ec3 Barr<\/span>
                      \n<\/span> + Tr\u00ed tu\u1ec7 k\u00e9m ph\u00e1t tri\u1ec3n<\/span>
                      \n<\/span> + T\u00f3c m\u1ecdc th\u1ea5p, da g\u1eafn li\u1ec1n v\u1edbi c\u1ed5, n\u1ebfp v\u00e2n da hoa t\u0103ng, da nhi\u1ec1u n\u1ed1t ru\u1ed3i, khe m\u1eaft tr\u0169ng c\u00f3 n\u1ebfp qu\u1ea1t, c\u1ed5 ng\u1eafn, ng\u1ef1c bi\u1ebfn d\u1ea1ng, 2 n\u00fam v\u00fa m\u1ecdc g\u1ea7n v\u1ec1 ph\u00eda n\u00e1ch,t\u1eed cung nh\u1ecf hai s\u1eebng<\/span>
                      \n<\/span> + D\u1ecb t\u1eadt th\u1eadn, \u0111\u1ed9ng m\u1ea1ch ch\u1ee7 h\u1eb9p, c\u00f3 th\u1ec3 c\u1eadn th\u1ecb n\u1eb7ng<\/span>
                      \n<\/span> + Kh\u00f4ng ph\u00e1t tri\u1ec3n gi\u1edbi t\u00ednh th\u1ee9 c\u1ea5p \u0111\u00f4i khi c\u00f3 d\u1ea5u hi\u1ec7u nan h\u00f3a.<\/span>
                      \n<\/span> + Kh\u00f4ng c\u00f3 ho\u1eb7c gi\u1ea3m Ostrogen v\u00e0 Pregnandion, FSH t\u0103ng.<\/span><\/p>\n

                        \n
                      • H\u1ed9i ch\u1ee9ng XXY:<\/span><\/li>\n<\/ul>\n

                        \u2013 C\u01a1 ch\u1ebf: r\u1ed1i lo\u1ea1n trong gi\u1ea3m ph\u00e2n l\u00e0m c\u1eb7p NST gi\u1edbi t\u00ednh c\u1ee7a b\u1ed1 ho\u1eb7c m\u1eb9 kh\u00f4ng ph\u00e2n ly t\u1ea1o th\u00e0nh giao t\u1eed XY ho\u1eb7c XX ->giao t\u1eed n\u00e0y k\u1ebft h\u1ee3p v\u1edbi giao t\u1eed b\u00ecnh th\u01b0\u1eddng X ho\u1eb7c Y t\u1ea1o th\u00e0nh h\u1ee3p t\u1eed mang 3 NST XXY.<\/span>
                        \n<\/span>\u2013 H\u1eadu qu\u1ea3: <\/span><\/p>\n

                        \u00a0+ M\u1edbi sinh kh\u00f4ng ch\u1ea9n \u0111o\u00e1n \u0111\u01b0\u1ee3c b\u1ec7nh<\/span>
                        \n<\/span> + Tinh ho\u00e0n l\u1ea1c ch\u1ed7, k\u00e9m ph\u00e1t tri\u1ec5n, kh\u00f4ng \u0111\u1eb7c hi\u1ec7u,tinh ho\u00e0n teo, m\u1ec1m,m\u00e0o tinh ho\u00e0n l\u1edbn h\u01a1n tinh ho\u00e0n, kh\u00f4ng c\u00f3 c\u1ea3m gi\u00e1c \u0111au<\/span>
                        \n<\/span> + Ch\u1ee9ng v\u00fa to \u1edf 12,13 tu\u1ed5i,l\u00fac \u0111\u00e2u kh\u00f4ng c\u00e2n \u0111\u1ed1i, sau \u0111\u00f3 c\u00e2n \u0111\u1ed1i khi tr\u01b0\u1edfng th\u00e0nh<\/span>
                        \n<\/span> + Gi\u1edbi t\u00ednh nam k\u00e9m ph\u00e1t tri\u1ec3n: \u00edt l\u00f4ng mu, kh\u00f4ng r\u00e2u,d\u01b0\u01a1ng v\u1eadt nh\u1ecf. Xu h\u01b0\u1edbng cao h\u01a1n trung b\u00ecnh, tay ch\u00e2n d\u00e0i kh\u00f4ng c\u00e2n \u0111\u1ed1i c\u01a1 th\u1ec3<\/span>
                        \n<\/span> + Tr\u00ed tu\u1ec7 k\u00e9m ph\u00e1t tri\u1ec3n, r\u1ed1i lo\u1ea1n t\u00e2m th\u1ea7n, t \u00ec n h d \u1ee5 c gi\u1ea3m.<\/span>
                        \n<\/span> + T\u1ed5ng s\u1ed1 v\u00e2n \u0111\u1ea7u ng\u00f3n tay gi\u1ea3m, nh\u01b0ng t\u0103ng t\u1ea7n s\u1ed1 v\u00e2n cung,t\u0103ng t\u1ea7n s\u1ed1 n\u1ebfp ngang \u0111\u01a1n \u0111\u1ed9c, ch\u1ea1c ba tr\u1ee5c l\u1ec7ch v\u1ec1 ph\u00eda b\u1edd tr\u1ee5c b\u00e0n tay.<\/span>
                        \n<\/span> + Tr\u01b0\u1edbc tu\u1ed5i d\u1eady th\u00ec kh\u00f4ng c\u00f3 bi\u1ebfn \u0111\u1ed5i, tu\u1ed5i d\u1eady th\u00ec l\u01b0\u1ee3ng FSH t\u0103ng<\/span>
                        \n<\/span> + Th\u01b0\u1eddng v\u00f4 sinh v\u00ec kh\u00f4ng c\u00f3 tinh tr\u00f9ng<\/span><\/p>\n

                        F, Ph\u00e2n bi\u1ec7t c\u00e1c b\u1ec7nh l\u01b0\u1ee1ng t\u00ednh gi\u1ea3 nam<\/b><\/p>\n\n\n\n\n\n\n
                        <\/td>\n* thi\u1ebfu men 5 \u03b1-redutase<\/b><\/td>\n* thi\u1ebfu men testosteron<\/b><\/td>\n* \u0110B gen AR<\/b><\/td>\n<\/tr>\n
                        Nguy\u00ean nh\u00e2n<\/span><\/td>\nthi\u1ebfu men \u03b1-redutase d\u1eabn \u0111\u1ebfn testosteron ko th\u1ec3 chuy\u1ec3n h\u00f3a th\u00e0nh DHT. Vi\u1ec7c thi\u1ebfu men n\u00e0y ko \u1ea3nh h\u01b0\u1edfng \u1edf n\u1eef nh\u01b0ng \u1edf nam, g\u00e2y ra nh\u1eefng sai h\u1ecfng \u1edf b\u1ed9 ph\u1eadn sinh d\u1ee5c ngo\u00e0i<\/span><\/td>\nTestosteron \u0111\u01b0\u1ee3c t\u1ea1o t\u1eeb tb Leydig c\u1ea7n c\u00f3 m\u1ed9t s\u1ed1 men 17-hydrolase v\u00e0 17-\u03b2-hydroxusteroid dehydrogenase. Vi\u1ec7c thi\u1ebfu h\u1ee5t c\u00e1c men d\u1eabn \u0111\u1ebfn testosteron \u00edt ho\u1eb7c ko c\u00f3, d\u1eabn \u0111\u1ebfn vi\u1ec7c ko th\u1ec3 h\u00ecnh th\u00e0nh \u0111\u01b0\u1eddng sinh d\u1ee5c nam, \u1ed1ng wolff.<\/span><\/td>\nV\u00ec gen AR b\u1ecb \u0111\u1ed9t bi\u1ebfn g\u00e2y thi\u1ebfu h\u1ee5t th\u1ee5 quan androgen chuy\u00ean bi\u1ec7t \u0111\u1ec3 ti\u1ebfp nh\u1eadn testosteron. Testosteron ko nam h\u00f3a \u0111\u01b0\u1ee3c bpsd ngo\u00e0i v\u00ec m\u00f4 \u0111\u00edch ko \u0111\u00e1p \u1ee9ng \u0111\u01b0\u1ee3c testosteron.<\/span><\/td>\n<\/tr>\n
                        Bi\u1ec3u hi\u1ec7n\u00a0<\/span><\/td>\nCh\u1ec9 thi\u1ebfu DHT n\u00ean v\u1eabn c\u00f3 AMH, s\u1ebd kh\u00f4ng h\u00ecnh th\u00e0nh tuy\u1ebfn sinh d\u1ee5c n\u1eef,\u00a0<\/span><\/p>\n

                        \u1ed1ng wolff v\u1eabn ph\u00e1t tri\u1ec3n c\u00f3 testosteron v\u00e0 \u0111\u01b0\u1eddng sinh d\u1ee5c nam.\u00a0<\/span><\/p>\n

                        Bpsd ngo\u00e0i b\u1ecb n\u1eef h\u00f3a: d\u1ecb t\u1eadt l\u1ed7 \u0111\u00e1i d\u01b0\u1edbi, bi\u1ebfn b\u00ecu th\u00e0nh m\u00f4i l\u1edbn, \u2026<\/span><\/td>\n

                        		Do c\u00f3 AHM n\u00ean ko h\u00ecnh th\u00e0nh \u0111\u01b0\u1eddng sinh d\u1ee5c n\u1eef\u00a0<\/span><\/p>\n

                        nh\u01b0ng cung ko th\u1ec3 h\u00ecnh th\u00e0nh \u0111\u01b0\u1eddng sinh d\u1ee5c nam, \u1ed1ng wolff. Tinh ho\u00e0n ko chuy\u1ec3n xu\u1ed1ng b\u00ecu<\/span><\/p>\n

                        bpsd ngo\u00e0i b\u1ecb n\u1eef h\u00f3a.<\/span><\/td>\n

                        		Khi d\u1eady th\u00ec ng\u01b0\u1eddi b\u1ec7nh c\u00f3 v\u00fa ph\u00e1t tri\u1ec3n, ki\u1ec3u h\u00ecnh n\u1eef nh\u01b0ng ko c\u00f3 kinh, ko c\u00f3 con, t\u00e2m sinh l\u00fd h\u01b0\u1edbng n\u1eef v\u00e0 \u0111\u01b0\u1ee3c ph\u00e1p lu\u1eadt th\u1eeba nh\u1eadn l\u00e0 n\u1eef. Ng\u01b0\u1eddi b\u1ec7nh c\u00f3 tinh ho\u00e0n \u1ea9n, ko c\u00f3 bu\u1ed3ng tr\u1ee9ng v\u00e0 t\u1eed cung. H\u1ecd ch\u1ec9 ph\u00e1t hi\u1ec7n ra c\u01a1 th\u1ec3 c\u00f3 v\u1ea5n \u0111\u1ec1 khi c\u00f3 v\u1ea5n \u0111\u1ec1 s\u1ee9c kh\u1ecfe, hay c\u00e1c v\u0111v th\u1ec3 thao, vv<\/span><\/td>\n<\/tr>\n
                        <\/td>\n\u0110\u00e2y l\u00e0 d\u1ea1ng b\u1ec7nh nh\u1eb9 nh\u1ea5t. Ng\u01b0\u1eddi b\u1ec7nh \u1edf tu\u1ed5i d\u1eady th\u00ec, testosteron s\u1ebd t\u0103ng cao n\u00ean c\u00f3 s\u1ef1 bi\u1ec7t h\u00f3a, ph\u1ee5c h\u1ed3i l\u1ea1i b\u1ed9 ph\u1eadn sinh d\u1ee5c ngo\u00e0i nh\u01b0 ng\u01b0\u1eddi nam b\u00ecnh th\u01b0\u1eddng. Tuy nhi\u00ean n\u1ebfu c\u00f3 s\u1ef1 can thi\u1ec7n t\u1eeb s\u1edbm s\u1ebd t\u1ed1t h\u01a1n \u0111\u1ee3i ng\u01b0\u1eddi b\u1ec7nh t\u1ef1 ph\u1ee5c h\u1ed3i.<\/span><\/td>\n\u0110\u1ebfn tu\u1ed5i d\u1eady th\u00ec testosteron ko \u0111\u01b0\u1ee3c ti\u1ebft th\u00eam n\u00ean ko t\u1ef1 ph\u1ee5c h\u1ed3i, bi\u1ec3u hi\u1ec7n t\u00ednh \u00e1i nam \u00e1i n\u1eef.<\/span><\/td>\nN\u1ebfu ng\u01b0\u1eddi n\u1eef b\u1ecb \u0111\u1ed9t bi\u1ebfn gen AR tr\u00ean 1 NST X th\u00ec kh\u1ea3 n\u0103ng truy\u1ec1n b\u1ec7nh cho con trai l\u00e0 \u00bd.<\/span><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

                         <\/p>\n

                        C\u00e2u 9<\/b>: S\u1ef1 di truy\u1ec1n m\u1ed9t s\u1ed1 t\u00ednh tr\u1ea1ng \u0111i\u1ec3n h\u00ecnh<\/b><\/p>\n

                        A, S\u1ef1 di truy\u1ec1n nh\u00f3m m\u00e1u ABO<\/b>
                        \n<\/b>– C\u01a1 s\u1edf ph\u00e2n bi\u1ec7t c\u00e1c nh\u00f3m m\u00e1u:<\/span><\/p>\n

                        + Nh\u00f3m m\u00e1u A: h\u1ed3ng c\u1ea7u c\u00f3 kh\u00e1ng nguy\u00ean A, h\u1ed3ng c\u1ea7u A b\u1ecb ng\u01b0ng k\u1ebft b\u1edfi huy\u1ebft thanh ch\u1ee9a kh\u00e1ng th\u1ec3 kh\u00e1ng A. Huy\u1ebft thanh c\u00f3 kh\u00e1ng th\u1ec3 t\u1ef1 nhi\u00ean kh\u00e1ng B<\/span>
                        \n<\/span>+ Nh\u00f3m m\u00e1u B: h\u1ed3ng c\u1ea7u c\u00f3 kh\u00e1ng nguy\u00ean B , h\u1ed3ng c\u1ea7u B b\u1ecb ng\u01b0ng k\u1ebft b\u1edfi huy\u1ebft thanh ch\u1ee9a kh\u00e1ng th\u1ec3 B. Huy\u1ebft thanh c\u00f3 kh\u00e1ng th\u1ec3 t\u1ef1 nhi\u00ean kh\u00e1ng A<\/span>
                        \n<\/span>+ Nh\u00f3m m\u00e1u AB: h\u1ed3ng c\u1ea7u c\u00f3 c\u1ea3 kh\u00e1ng nguy\u00ean A v\u00e0 B, h\u1ed3ng c\u1ea7u AB b\u1ecb ng\u01b0ng k\u1ebft b\u1edfi c\u1ea3 2 lo\u1ea1i huy\u1ebft thanh ch\u1ee9a kh\u00e1ng th\u1ec3 A v\u00e0 B. Huy\u1ebft thanh kh\u00f4ng c\u00f3 kh\u00e1ng th\u1ec3<\/span>
                        \n<\/span>+ Ki\u1ec3u h\u00ecnh nh\u00f3m m\u00e1u O, h\u1ed3ng c\u1ea7u kh\u00f4ng c\u00f3 kh\u00e1ng nguy\u00ean A,B. H\u1ed3ng c\u1ea7u O v\u00ec kh\u00f4ng c\u00f3 kh\u00e1ng nguy\u00ean A,B n\u00ean kh\u00f4ng b\u1ecb ng\u01b0ng k\u1ebft b\u1edfi c\u1ea3 2 lo\u1ea1i huy\u1ebft thanh c\u00f3 kh\u00e1ng th\u1ec3 kh\u00e1ng A v\u00e0 kh\u00e1ng B<\/span><\/p>\n

                        – Vai tr\u00f2 c\u1ee7a gen H: <\/span>\u00a0<\/span>m\u00e3 h\u00f3a cho enzim fucosyl transferaza th\u00ec enzim n\u00e0y s\u1ebd g\u1eafn m\u1ed9t L-fucosa l\u00ean ti\u1ec1n t\u1ed1 c\u00f3 b\u1ea3n ch\u1ea5t glycoprotein, chuy\u1ec3n ti\u1ec1n t\u1ed1 n\u00e0y th\u00e0nh kh\u00e1ng nguy\u00ean H tr\u00ean m\u1eb7t h\u1ed3ng c\u1ea7u c\u1ee7a \u0111a s\u1ed1 ng\u01b0\u1eddi c\u00f3 nh\u00f3m m\u00e1u O. Tr\u00ean c\u01a1 s\u1edf ch\u1ea5t H s\u1ebd h\u00ecnh th\u00e0nh c\u00e1c kh\u00e1ng nguy\u00ean A ho\u1eb7c B t\u00f9y theo s\u1ef1 c\u00f3 m\u1eb7t c\u1ee7a c\u00e1c gen t\u01b0\u01a1ng \u1ee9ng.<\/span><\/p>\n

                        – Vai tr\u00f2 c\u1ee7a gen I: g\u1ed3m 3 alen quy \u0111\u1ecbnh t\u1ed5ng h\u1ee3p n\u00ean c\u00e1c kh\u00e1ng nguy\u00ean A v\u00e0 B => quy \u0111\u1ecbnh n\u00ean nh\u00f3m m\u00e1u.<\/span><\/p>\n

                        -B\u1ea3n ch\u1ea5t c\u00e1c kh\u00e1ng nguy\u00ean c\u1ee7a nh\u00f3m m\u00e1u ABO l\u00e0 c\u00e1c glycoprotein l\u00e0 s\u1ea3n ph\u1ea9m chuy\u1ec3n h\u00f3a c\u1ee7a nh\u1eefng enzim x\u00e1c \u0111\u1ecbnh.<\/span>\u00a0<\/span><\/p>\n\n\n\n\n
                        Nh\u00f3m m\u00e1u O b\u00ecnh th\u01b0\u1eddng<\/span><\/td>\nNh\u00f3m m\u00e1u O bombay<\/span><\/td>\n<\/tr>\n
                        -c\u00f3 kh\u00e1ng nguy\u00ean H<\/span><\/p>\n

                        -huy\u1ebft thanh kh\u00f4ng ng\u01b0ng k\u1ebft h\u1ed3ng c\u1ea7u c\u1ee7a ng\u01b0\u1eddi nh\u00f3m m\u00e1u O kh\u00e1c.<\/span><\/td>\n

                        		-kh\u00f4ng c\u00f3 kh\u00e1ng nguy\u00ean H<\/span><\/p>\n

                        -huy\u1ebft thanh ng\u01b0ng k\u1ebft h\u1ed3ng c\u1ea7u c\u1ee7a ng\u01b0\u1eddi nh\u00f3m m\u00e1u O kh\u00e1c.<\/span><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

                         <\/p>\n

                        B, Di truy\u1ec1n nh\u00f3m m\u00e1u Rhesus<\/b><\/p>\n

                        – Nh\u00f3m m\u00e1u n\u00e0y b\u1ecb chi ph\u1ed1i b\u1edfi 2 alen R v\u00e0 r. ng\u01b0\u1eddi mang Rh d\u01b0\u01a1ng c\u00f3 KG RR ho\u1eb7c Rr. Ng\u01b0\u1eddi mang Rh \u00e2m c\u00f3 KG rr<\/span><\/p>\n

                        – Lo\u00e0i ng\u01b0\u1eddi \u0111a s\u1ed1 c\u00f3 Rh d\u01b0\u01a1ng. ng\u01b0\u1eddi c\u00f3 Rh \u00e2m trong m\u00e1u ko c\u00f3 s\u1eb5n kh\u00e1ng th\u1ec3, ch\u1ec9 khi n\u00e0o c\u00f3 h\u1ed3ng c\u1ea7u Rh d\u01b0\u01a1ng x\u00e2m nh\u1eadp v\u00e0o, c\u01a1 th\u1ec3 m\u1edbi ph\u1ea3n \u1ee9ng sx ra kh\u00e1ng th\u1ec3 ch\u1ed1ng l\u1ea1i y\u1ebfu t\u1ed1 Rh. Khi l\u1ea5y m\u00e1u ng\u01b0\u1eddi c\u00f3 Rh d\u01b0\u01a1ng truy\u1ec1n cho ng\u01b0\u1eddi c\u00f3 Rh \u00e2m l\u1ea7n th\u01b0 nh\u1ea5t ko c\u00f3 ph\u1ea3n \u1ee9ng. khi truy\u1ec1n m\u00e1u c\u00f3 Rh d\u01b0\u01a1ng l\u1ea7n th\u1ee9 2 s\u1ebd g\u00e2y ra ph\u1ea3n \u1ee9ng, c\u00e1c h\u1ed3ng c\u1ea7u truy\u1ec1n v\u00e0o b\u1ecb ng\u01b0ng k\u1ebft g\u00e2y s\u1ed1c truy\u1ec1n m\u00e1u. C\u00e0ng v\u1ec1 sau ph\u1ea3n \u1ee9ng c\u00e0ng m\u1ea1nh.<\/span><\/p>\n

                        – Nh\u1eefng ng\u01b0\u1eddi c\u00f3 Rh \u00e2m mang thai con l\u00e0 Rh d\u01b0\u01a1ng, trong qu\u00e1 tr\u00ecnh mang thai, c\u01a1 th\u1ec3 m\u1eb9 s\u1ebd s\u1ea3n xu\u1ea5t ra kh\u00e1ng th\u1ec3 ch\u1ed1ng l\u1ea1i y\u1ebfu t\u1ed1 Rh, kh\u00e1ng th\u1ec3 n\u00e0y t\u1eeb m\u00e1u m\u1eb9 x\u00e2m nh\u1eadp v\u00e0o thai, t\u00e1c d\u1ee5ng l\u00ean h\u1ed3ng c\u1ea7u c\u1ee7a thai, ph\u00e1 h\u1ee7y m\u1ed9t s\u1ed1 h\u1ed3ng c\u1ea7u c\u1ee7a n\u00f3. Thai b\u1ecb ch\u1ee9ng thi\u1ebfu m\u00e1u tan huy\u1ebft suy y\u1ebfu \u0111i, c\u00f3 th\u1ec3 b\u1ecb s\u1ea9y thai ho\u1eb7c \u0111\u1ebb non. Nh\u1eefng l\u00e0n c\u00f3 thai sau, n\u1ebfu thai c\u00f3 Rh d\u01b0\u01a1ng th\u00ec c\u00e0ng b\u1ecb n\u1eb7ng h\u01a1n.<\/span><\/p>\n

                        C, Di truy\u1ec1n ung th\u01b0<\/b><\/p>\n

                        – Ung th\u01b0 \u0111\u01b0\u1ee3c sinh ra b\u1edfi s\u1ef1 bi\u1ebfn \u0111\u1ed5i c\u1ee7a c\u00e1c gen ki\u1ec3m so\u00e1t ch\u1ee9c n\u0103ng t\u1ebf b\u00e0o, \u0111\u1eb7c bi\u1ec7t l\u00e0 c\u00e1c gen ki\u1ec3m so\u00e1t qu\u00e1 tr\u00ecnh ph\u00e1t tri\u1ec3n v\u00e0 ph\u00e2n chia t\u1ebf b\u00e0o.<\/span>
                        \n<\/span>– C\u00e1c gen g\u00e2y ra ung th\u01b0 c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c di truy\u1ec1n t\u1eeb cha m\u1eb9, tuy nhi\u00ean, \u0111a ph\u1ea7n ch\u00fang n\u1ea3y sinh trong qu\u00e1 tr\u00ecnh s\u1ed1ng c\u1ee7a m\u1ed7i c\u00e1 th\u1ec3 khi ph\u00e2n chia t\u1ebf b\u00e0o, ho\u1eb7c c\u00e1c t\u1ed5n th\u01b0\u01a1ng ADN do ph\u01a1i nhi\u1ec5m v\u1edbi c\u00e1c y\u1ebfu t\u1ed1 m\u00f4i tr\u01b0\u1eddng xung quanh. C\u00e1c y\u1ebfu t\u1ed1 m\u00f4i tr\u01b0\u1eddng g\u00e2y ung th\u01b0 g\u1ed3m c\u00f3 c\u00e1c ch\u1ea5t sinh ung th\u01b0 nh\u01b0 kh\u00f3i thu\u1ed1c l\u00e1 v\u00e0 tia b\u1ee9c x\u1ea1 nh\u01b0 tia c\u1ef1c t\u00edm.<\/span><\/p>\n

                        – Gen sinh ung th\u01b0: <\/span>Gene n\u00e0y l\u00e0 m\u1ed9t gene c\u00f3 ch\u1ee9c n\u0103ng sinh l\u00fd trong t\u1ebf b\u00e0o. <\/span>Ch\u1ee9c n\u0103ng sinh l\u00fd c\u1ee7a gen sinh ung l\u00e0 \u0111i\u1ec1u h\u00f2a \u0111\u01b0\u1eddng d\u1eabn truy\u1ec1n\u00a0t\u00edn hi\u1ec7u t\u1ebf b\u00e0o\u00a0\u0111\u1ec3 t\u1ebf b\u00e0o nh\u1eadn c\u00e1c k\u00edch th\u00edch cho s\u1ef1 ph\u00e2n b\u00e0o v\u00e0\u00a0ch\u1ebft theo l\u1eadp tr\u00ecnh. Khi n\u00f3 b\u1ecb \u0111\u1ed9t bi\u1ebfn th\u00ec g\u00e2y ra s\u1ef1 t\u0103ng sinh t\u1ebf b\u00e0o kh\u00f4ng ki\u1ec3m so\u00e1t \u0111\u01b0\u1ee3c.<\/span><\/p>\n

                        Vd<\/span>: <\/span> +HST: U d\u1ea1 d\u00e0y<\/span><\/p>\n

                        +RET: U nhi\u1ec1u tuy\u1ebfn n\u1ed9i ti\u1ebft<\/span><\/p>\n

                        + H.RAS: U \u0111\u1ea1i tr\u00e0ng, ph\u1ed5i, t\u1ee5y<\/span> \u00a0<\/span><\/p>\n

                        – Gen \u1ee9c ch\u1ebf kh\u1ed1i u,\u00a0l\u00e0 gen c\u00f3 vai tr\u00f2 l\u00e0m ch\u1eadm l\u1ea1i s\u1ef1 ph\u00e2n chia t\u1ebf b\u00e0o, tham gia\u00a0<\/span>s\u1eeda ch\u1eefa DNA<\/span>\u00a0ho\u1eb7c k\u00edch ho\u1ea1t qu\u00e1 tr\u00ecnh\u00a0<\/span>ch\u1ebft theo ch\u01b0\u01a1ng tr\u00ecnh<\/span>. N\u1ebfu gen \u1ee9c ch\u1ebf kh\u1ed1i u b\u1ecb gi\u1ea3m ho\u1eb7c m\u1ea5t ch\u1ee9c n\u0103ng, qu\u00e1 tr\u00ecnh ph\u00e2n chia t\u1ebf b\u00e0o kh\u00f4ng c\u00f2n \u0111\u01b0\u1ee3c ki\u1ec3m so\u00e1t v\u00e0 c\u00f3 th\u1ec3 d\u1eabn \u0111\u1ebfn ung th\u01b0.<\/span><\/p>\n

                        Vd<\/span>: <\/span> nh\u00f3m c\u00e1c gen \u1ee9c ch\u1ebf kh\u1ed1i u: Rb1, p53<\/span><\/p>\n

                        – C\u01a1 ch\u1ebf g\u00e2y ung th\u01b0 v\u00f5ng m\u1ea1c do \u0111\u1ed9t bi\u1ebfn gen RB \u1edf ng\u01b0\u1eddi<\/span><\/p>\n

                        + Gen \u1ee9c ch\u1ebf kh\u1ed1i u ho\u1ea1t \u0111\u1ed9ng theo c\u01a1 ch\u1ebf \u0111i\u1ec1u khi\u1ec3n ng\u01b0\u1ee3c, gen mu\u1ed1n ho\u1ea1t \u0111\u1ed9ng ph\u1ea3i c\u00f3 y\u1ebfu t\u1ed1 phi\u00ean m\u00e3 E2F.<\/span><\/p>\n

                        + Gen n\u00e0y ho\u1ea1t \u0111\u1ed9ng khi n\u00f3 kh\u00f4ng \u0111\u01b0\u1ee3c photphoryl h\u00f3a nh\u01b0ng b\u1ea5t ho\u1ea1t khi \u0111\u01b0\u1ee3c photphoryl h\u00f3a b\u1edfi CDK tr\u01b0\u1edbc giai \u0111o\u1ea1n S c\u1ee7a chu k\u1ef3 t\u1ebf b\u00e0o<\/span><\/p>\n

                        + Khi gen n\u00e0y ho\u1ea1t \u0111\u1ed9ng s\u1ebd t\u1ed5ng h\u1ee3p n\u00ean protein pRb li\u00ean k\u1ebft v\u1edbi E2F, b\u1ea5t ho\u1ea1t E2F l\u00e0m t\u1ebf b\u00e0o d\u1eebng l\u1ea1i, kh\u00f4ng b\u01b0\u1edbc v\u00e0o pha S.<\/span><\/p>\n

                        + Khi gen n\u00e0y b\u1ecb \u1ee9c ch\u1ebf l\u00e0m kh\u00f4ng t\u1ed5ng h\u1ee3p ho\u1eb7c m\u1ea5t ch\u1ee9c n\u0103ng c\u1ee7a pRb. D\u1eabn \u0111\u1ebfn kh\u00f4ng c\u00f3 y\u1ebfu t\u1ed1 b\u1ea5t ho\u1ea1t E2F. Ph\u1ee9c h\u1ee3p E2F s\u1ebd ho\u1ea1t \u0111\u1ed9ng li\u00ean t\u1ee5c l\u00e0m t\u1ebf b\u00e0o v\u00f5ng m\u1ea1c ph\u00e2n chia li\u00ean t\u1ee5c v\u00e0 ph\u00e1t sinh ung th\u01b0\u00a0<\/span><\/p>\n

                        D, Di truy\u1ec1n h\u1ec7 th\u1ed1ng HLA<\/b><\/p>\n

                        – Kh\u00e1i ni\u1ec7m: l\u00e0 h\u1ec7 th\u1ed1ng kh\u00e1ng nguy\u00ean t\u1ef1 th\u00e2n, tham gia c\u00e1c m\u1ee9c \u0111\u1ed9 kh\u00e1c nhau v\u00e0o qu\u00e1 tr\u00ecnh nh\u1eadn di\u1ec7n mi\u1ec5n d\u1ecbch, \u0111\u00e1p \u1ee9ng mi\u1ec5n d\u1ecbch v\u00e0 \u0111i\u1ec1u h\u00f2a mi\u1ec5n d\u1ecbch \u1edf ng\u01b0\u1eddi.<\/span><\/p>\n

                        – C\u01a1 s\u1edf di truy\u1ec1n: c\u00e1c gen c\u1ee7a h\u1ec7 th\u1ed1ng HLA g\u1ed3m 3 l\u1edbp v\u1edbi ch\u1ee9c n\u0103ng l\u1ea7n l\u01b0\u1ee3t l\u00e0: chi ph\u1ed1i cho s\u1ef1 bi\u1ec3u hi\u1ec7n c\u1ee7a kh\u00e1ng nguy\u00ean tr\u00ean t\u1ebf b\u00e0o T, chi ph\u1ed1i cho s\u1ef1 bi\u1ec3u hi\u1ec7n c\u1ee7a kh\u00e1ng nguy\u00ean tr\u00ean t\u1ebf b\u00e0o B, m\u00e3 h\u00f3a t\u1ed5ng h\u1ee3p hoocm\u00f4n th\u01b0\u1ee3ng th\u1eadn.<\/span><\/p>\n

                        – C\u00e1c alen c\u1ee7a t\u1eebng gen trong h\u1ec7 th\u1ed1ng HLA th\u01b0\u1eddng \u1edf tr\u1ea1ng th\u00e1i d\u1ecb h\u1ee3p, t\u1ea1o n\u00ean t\u00ednh \u0111a h\u00ecnh c\u1ee7a h\u1ec7 th\u1ed1ng, g\u00f3p ph\u1ea7n t\u1ea1o n\u00ean t\u00ednh \u0111a d\u1ea1ng, t\u00ednh \u0111\u1eb7c ch\u01b0ng c\u1ee7a c\u00e1 th\u1ec3<\/span><\/p>\n

                        – Ch\u1ee9c n\u0103ng: v\u00ec t\u00ednh \u0111a h\u00ecnh cao, c\u00e1c kh\u00e1ng nguy\u00ean \u0111\u01b0\u1ee3c di truy\u1ec1n theo ki\u1ec3u meldel n\u00ean h\u1ec7 HLA \u0111\u01b0\u1ee3c d\u00f9ng trong ph\u00e1p y, x\u00e1c \u0111\u1ecbnh quan h\u1ec7 huy\u1ebft th\u1ed1ng. S\u1eed d\u1ee5ng r\u1ed9ng r\u00e3i trong nghi\u00ean c\u1ee9u kh\u00e1ng nguy\u00ean ph\u00f9 h\u1ee3p t\u1ed5 ch\u1ee9c m\u00f4 trong gh\u00e9p c\u01a1 quan. L\u00e0 ch\u1ec9 s\u1ed1 sinh h\u1ecdc \u0111\u01b0\u1ee3c quan t\u00e2m trong nghi\u00ean c\u1ee9u nh\u00e2n ch\u1ee7ng h\u1ecdc.<\/span><\/p>\n

                        C\u00e2u 10<\/b>: Chu\u1ea9n \u0111o\u00e1n tr\u01b0\u1edbc sinh<\/b><\/p>\n

                        – Ch\u1ec9 \u0111\u1ecbnh trong tr\u01b0\u1eddng h\u1ee3p:<\/span><\/p>\n

                          \n
                        • B\u1ec7nh s\u1eed gia \u0111\u00ecnh ho\u1eb7c con tr\u01b0\u1edbc \u0111\u00e3 c\u00f3 v\u1ea5n \u0111\u1ec1 di truy\u1ec1n<\/span><\/li>\n
                        • B\u1ed1 m\u1eb9 \u0111\u00e3 bi\u1ebft b\u1ea3n th\u00e2n mang gen \u0111\u1eb7c th\u00f9<\/span><\/li>\n
                        • K\u1ebft qu\u1ea3 si\u00eau \u00e2m cho th\u1ea5y k\u1ebft qu\u1ea3 b\u1ea5t th\u01b0\u1eddng<\/span><\/li>\n
                        • K\u1ebft qu\u1ea3 x\u00e9t nghi\u1ec7m t\u1ea7m so\u00e1t cho th\u1ea5y thai k\u1ef3 n\u1eb1m trong nh\u00f3m y\u1ebfu t\u1ed1 nguy c\u01a1 cao<\/span><\/li>\n
                        • B\u00e0 m\u1eb9 mang thai tr\u00ean 35 tu\u1ed5i<\/span><\/li>\n
                        • B\u00e0 m\u1eb9 s\u1ea9y thai li\u00ean ti\u1ebfp<\/span><\/li>\n<\/ul>\n

                          – N\u1ed9i dung c\u00e1c ph\u01b0\u01a1ng ph\u00e1p chu\u1ea9n \u0111o\u00e1n tr\u01b0\u1edbc sinh<\/span><\/p>\n

                          + Si\u00eau \u00e2m b\u00e0o thai: X\u00e1c \u0111\u1ecbnh \u0111\u01b0\u1ee3c khuy\u1ebfn t\u1eadt di truy\u1ec1n nh\u01b0: s\u1ee9t m\u00f4i, h\u1edf h\u00e0m, v\u1ee1 n\u00e3o, tho\u00e1t v\u1ecb n\u00e3o, tr\u00e0n d\u1ecbch n\u00e3o, tho\u00e1t v\u1ecb r\u1ed1n, tho\u00e1t v\u1ecb c\u01a1 ho\u00e0nh\u2026 x\u00e1c \u0111\u1ecbnh gi\u1edbi t\u00ednh c\u1ee7a thai nhi tr\u00ean 3 th\u00e1ng, khi c\u01a1 quan sinh d\u1ee5c ngo\u00e0i \u0111\u00e3 h\u00ecnh th\u00e0nh, c\u1ea7n k\u1ebft h\u1ee3p x\u00e9t nghi\u1ec7m di truy\u1ec1n.<\/span><\/p>\n

                          + Ch\u1ecdc d\u00f2 d\u1ecbch \u1ed1i: qua th\u00e0nh b\u1ee5ng ho\u1eb7c \u0111\u01b0\u1eddng \u00e2m \u0111\u1ea1o. ti\u1ebfn h\u00e0nh v\u00e0o tu\u1ea7n 15-18. D\u1ecbch \u1ed1i \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng v\u1edbi k\u0129 thu\u1eadt nhu\u1ed9m t\u1ebf b\u00e0o. Ph\u00e1n \u0111o\u00e1n gi\u1edbi t\u00ednh c\u0169ng nh\u01b0 ph\u00e1t hi\u1ec7n m\u1ed9t s\u1ed1 b\u1ec7nh t\u1eadt di truy\u1ec1n. t\u1ec9 l\u1ec7 s\u1ea9y thai khi th\u1ef1c hi\u1ec7n ph\u01b0\u01a1ng ph\u00e1p n\u00e0y l\u00e0 t\u1eeb 0.5-1%<\/span><\/p>\n

                          + Sinh thi\u1ebft tua nhau thai: qua t\u1eed cung, th\u00e0nh b\u1ee5ng, k\u1ebft h\u1ee3p v\u1edbi si\u00eau \u00e2m. Ti\u1ebfn h\u00e0nh v\u00e0o tu\u1ea7n 8-10. S\u1eed d\u1ee5ng tua nhau thai l\u00e0m ti\u00eau b\u1ea3n NST. \u00a0 X\u00e9t nghi\u1ec7m, ph\u00e2n t\u00edch \u0111\u1ec3 chu\u1ea9n \u0111o\u00e1n b\u1ec7nh t\u1eadt di truy\u1ec1n. t\u1ec9 l\u1ec7 s\u1ea9y thai khi th\u1ef1c hi\u1ec7n ph\u01b0\u01a1ng ph\u00e1p n\u00e0y l\u00e0 2-3%<\/span><\/p>\n

                          + C\u00e1c x\u00e9t nghi\u1ec7m kh\u00e1c t\u1eeb t\u1ebf b\u00e0o ph\u00f4i thai: L\u1ea5y m\u1eabu cu\u1ed1ng r\u1ed1n thai nhi\/ t\u00e1ch t\u1ebf b\u00e0o thai nhi t\u1eeb m\u00e1u m\u1eb9 => chu\u1ea9n \u0111o\u00e1n tr\u01b0\u1edbc sinh. Ho\u1eb7c t\u00e1ch ph\u00f4i b\u00e0o t\u1eed kh\u1ed1i c\u00e1c ph\u00f4i b\u00e0o trong k\u1ef9 thu\u1eadt th\u1ee5 tinh \u1ed1ng nghi\u1ec7m.<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"

                          \u0110\u1ec0 C\u01af\u01a0NG DI TRUY\u1ec0N Y H\u1eccC C\u00e2u 1: So s\u00e1nh \u0111\u1eb7c \u0111i\u1ec3m c\u1ee7a qu\u00e1 tr\u00ecnh sao ch\u00e9p DNA, phi\u00ean m\u00e3 v\u00e0 d\u1ecbch m\u00e3 \u1edf Prokaryote v\u00e0 Eukaryote. A, Qu\u00e1 tr\u00ecnh sao ch\u00e9p DNA. * Gi\u1ed1ng nhau: – \u0110\u1ec1u d\u1ef1a tr\u00ean khu\u00f4n m\u1eabu c\u1ee7a ADN m\u1eb9. – T\u00ednh ch\u1ea5t to\u00e0n c\u1ee5c: to\u00e0n b\u1ed9 ph\u00e2n t\u1eed DNA …<\/p>\n","protected":false},"author":23,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-2998","post","type-post","status-publish","format-standard","","category-uncategorized"],"_links":{"self":[{"href":"https:\/\/ykhoataynguyen.com\/site\/wp-json\/wp\/v2\/posts\/2998","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/ykhoataynguyen.com\/site\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/ykhoataynguyen.com\/site\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/ykhoataynguyen.com\/site\/wp-json\/wp\/v2\/users\/23"}],"replies":[{"embeddable":true,"href":"https:\/\/ykhoataynguyen.com\/site\/wp-json\/wp\/v2\/comments?post=2998"}],"version-history":[{"count":1,"href":"https:\/\/ykhoataynguyen.com\/site\/wp-json\/wp\/v2\/posts\/2998\/revisions"}],"predecessor-version":[{"id":2999,"href":"https:\/\/ykhoataynguyen.com\/site\/wp-json\/wp\/v2\/posts\/2998\/revisions\/2999"}],"wp:attachment":[{"href":"https:\/\/ykhoataynguyen.com\/site\/wp-json\/wp\/v2\/media?parent=2998"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ykhoataynguyen.com\/site\/wp-json\/wp\/v2\/categories?post=2998"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ykhoataynguyen.com\/site\/wp-json\/wp\/v2\/tags?post=2998"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}