{"id":2963,"date":"2023-11-22T11:00:59","date_gmt":"2023-11-22T04:00:59","guid":{"rendered":"https:\/\/ykhoataynguyen.com\/site\/?p=2963"},"modified":"2024-09-14T18:00:09","modified_gmt":"2024-09-14T11:00:09","slug":"mot-so-van-de-di-truyen-y-hoc","status":"publish","type":"post","link":"https:\/\/ykhoataynguyen.com\/site\/mot-so-van-de-di-truyen-y-hoc\/","title":{"rendered":"M\u1ed9t s\u1ed1 v\u1ea5n \u0111\u1ec1 Di truy\u1ec1n Y H\u1ecdc"},"content":{"rendered":"

M\u1ed8T S\u1ed0 V\u1ea4N \u0110\u1ec0 V\u1ec0 DTYH\u00a0<\/b><\/p>\n

Ph\u1ea7n 1: C\u01a1 s\u1edf di truy\u1ec1n v\u00e0 ph\u01b0\u01a1ng ph\u00e1p nghi\u00ean c\u1ee9u<\/b>\u00a0<\/b><\/p>\n

    \n
  1. <\/b>So s\u00e1nh \u0111\u1eb7c \u0111i\u1ec3m c\u1ee7a qu\u00e1 tr\u00ecnh sao ch\u00e9p DNA, phi\u00ean m\u00e3, d\u1ecbch m\u00e3 DNA \u1edf Prokaryotes v\u00e0\u00a0 Eukaryotes.\u00a0<\/span><\/li>\n
  2. <\/b>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 Eukaryotes (Nh\u00e2n \u0111\u00f4i v\u1eadt li\u1ec7u di truy\u1ec1n; ph\u00e2n chia v\u1eadt\u00a0 li\u1ec7u di truy\u1ec1n; ph\u00e2n chia b\u00e0o ch\u1ea5t)\u00a0<\/span><\/li>\n
  3. <\/b>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\u00a0 nghi\u1ec7m v\u1eadt th\u1ec3 Barr (Tr\u00ecnh t\u1ef1 th\u1ef1c hi\u1ec7n, \u00fd ngh\u0129a).\u00a0<\/span><\/li>\n
  4. <\/b>C\u00e1c k\u1ef9 thu\u1eadt: T\u00e1ch chi\u1ebft DNA t\u1ed5ng s\u1ed1, PCR, FISH, \u0111i\u1ec7n di (Nguy\u00ean t\u1eafc th\u1ef1c hi\u1ec7n, \u00fd ngh\u0129a). <\/span>Ph\u1ea7n 2: Quy lu\u1eadt di truy\u1ec1n<\/b><\/b><\/li>\n
  5. <\/b>\u0110\u1eb7c \u0111i\u1ec3m s\u1ef1 di truy\u1ec1n c\u00e1c gene tr\u1ed9i tr\u00ean NST th\u01b0\u1eddng; gene l\u1eb7n tr\u00ean NST th\u01b0\u1eddng; gene tr\u1ed9i\u00a0 tr\u00ean NST gi\u1edbi t\u00ednh X; gene l\u1eb7n tr\u00ean NST gi\u1edbi t\u00ednh X. Li\u1ec7t k\u00ea m\u1ed9t s\u1ed1 t\u00ednh tr\u1ea1ng (l\u00e0nh, b\u1ec7nh) \u1edf ng\u01b0\u1eddi tu\u00e2n theo c\u00e1c quy lu\u1eadt di truy\u1ec1n tr\u00ean.\u00a0<\/span><\/li>\n
  6. Ph\u00e2n bi\u1ec7t s\u1ef1 di truy\u1ec1n: <\/b>Tr\u1ed9i tr\u00ean NST th\u01b0\u1eddng v\u1edbi l\u1eb7n tr\u00ean NST th\u01b0\u1eddng; Tr\u1ed9i tr\u00ean NST\u00a0 th\u01b0\u1eddng v\u1edbi tr\u1ed9i tr\u00ean NST gi\u1edbi t\u00ednh X.\u00a0<\/span><\/li>\n
  7. B\u1ed9 NST ng\u01b0\u1eddi:\u00a0<\/b><\/li>\n<\/ol>\n

    – \u0110\u1eb7c \u0111i\u1ec3m c\u1ea5u tr\u00fac b\u1ed9 gene ng\u01b0\u1eddi. Vai tr\u00f2 c\u1ee7a c\u00e1c nh\u00e2n t\u1ed1 chuy\u1ec3n v\u1ecb trong b\u1ed9 gene ng\u01b0\u1eddi. C\u01a1\u00a0 ch\u1ebf chuy\u1ec3n v\u1ecb c\u1ee7a LINE.\u00a0<\/span><\/p>\n

    – \u0110\u1eb7c \u0111i\u1ec3m c\u1ea5u tr\u00fac v\u00e0 c\u01a1 ch\u1ebf chuy\u1ec3n v\u1ecb c\u1ee7a LINEs v\u00e0 SINEs trong b\u1ed9 gene ng\u01b0\u1eddi. – \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 \u1edf ng\u01b0\u1eddi. C\u00e1c h\u1eadu qu\u1ea3 c\u00f3 th\u1ec3 c\u00f3\u00a0 khi x\u1ea3y ra \u0111\u1ed9t bi\u1ebfn c\u1ea5u tr\u00fac tr\u00ean hai NST n\u00e0y.\u00a0<\/span><\/p>\n

    – Ph\u00e2n bi\u1ec7t \u0111\u1eb7c \u0111i\u1ec3m c\u1ee7a c\u00e1c lo\u1ea1i v\u1eadt th\u1ec3 gi\u1edbi t\u00ednh \u1edf ng\u01b0\u1eddi (v\u1eadt th\u1ec3 Barr, v\u1eadt th\u1ec3 d\u00f9i tr\u1ed1ng, v\u1eadt\u00a0 th\u1ec3 Y)\u00a0<\/span><\/p>\n

    – S\u1ef1 b\u1ea5t ho\u1ea1t NST gi\u1edbi t\u00ednh X:\u00a0<\/span><\/p>\n

    + Gi\u1ea3 thuy\u1ebft c\u1ee7a Lyon:\u00a0<\/span><\/p>\n

    + C\u01a1 s\u1edf di truy\u1ec1n ph\u00e2n t\u1eed:\u00a0<\/span><\/p>\n

    + S\u1eed d\u1ee5ng c\u01a1 ch\u1ebf b\u1ea5t ho\u1ea1t NST gi\u1edbi t\u00ednh X \u0111\u1ec3 gi\u1ea3i th\u00edch: (1) S\u1ef1 thay \u0111\u1ed5i bi\u1ec3u hi\u1ec7n b\u1ec7nh do\u00a0 gene tr\u1ed9i li\u00ean k\u1ebft X quy \u0111\u1ecbnh; (2) Hi\u1ec7n t\u01b0\u1ee3ng \u201cH\u1ea7u h\u1ebft c\u00e1c c\u00e1 th\u1ec3 trong m\u1ed9t c\u1eb7p sinh \u0111\u00f4i c\u00f9ng\u00a0 tr\u1ee9ng n\u1eef kh\u00e1c nhau nhi\u1ec1u h\u01a1n sinh \u0111\u00f4i c\u00f9ng tr\u1ee9ng nam\u201d.\u00a0<\/span><\/p>\n

      \n
    1. S\u1ef1 di truy\u1ec1n c\u00e1c b\u1ec7nh \u0111i\u1ec3n h\u00ecnh:\u00a0<\/b><\/li>\n<\/ol>\n

      – Ph\u00e2n bi\u1ec7t b\u1ec7nh Hemophilia A v\u00e0 b\u1ec7nh Hemophilia B. C\u01a1 ch\u1ebf g\u00e2y ra Hemophilia do LINEs – Ph\u00e2n bi\u1ec7t c\u00e1c b\u1ec7nh Hemoglobin li\u00ean quan \u0111\u1ebfn s\u1ed1 l\u01b0\u1ee3ng chu\u1ed7i Hemoglobin \u1edf ng\u01b0\u1eddi (thalassemia alpha v\u00e0 thalassemia beta).\u00a0<\/span><\/p>\n

      – So s\u00e1nh h\u1ed9i ch\u1ee9ng Patau (trisomi 13) v\u00e0 h\u1ed9i ch\u1ee9ng Edwards (trisomi 18) – So s\u00e1nh h\u1ed9i ch\u1ee9ng Patau (trisomi 13) v\u00e0 h\u1ed9i ch\u1ee9ng Down (trisomi 21)\u00a0<\/span><\/p>\n

      – H\u1ed9i ch\u1ee9ng Down\u00a0<\/span><\/p>\n

      + Trisomy 21: Nguy\u00ean nh\u00e2n, c\u01a1 ch\u1ebf, h\u1eadu qu\u1ea3<\/span><\/p>\n

      + Chuy\u1ec3n \u0111o\u1ea1n c\u00e2n b\u1eb1ng t\u1ea1o ra con c\u00e1i b\u1ecb Down: D\/D; D\/G (L\u01b0u \u00fd tr\u01b0\u1eddng h\u1ee3p monosomy\u00a0 kh\u00f4ng thu\u1ea7n mang ki\u1ec3u nh\u00e2n b\u1ea5t th\u01b0\u1eddng, nh\u01b0ng ki\u1ec3u h\u00ecnh b\u00ecnh th\u01b0\u1eddng c\u00f3 th\u1ec3 sinh ra con b\u1ecb Down)\u00a0<\/span><\/p>\n

      + Down th\u1ec3 kh\u1ea3m <\/span>\u2192 <\/span>gi\u1ea3m bi\u1ec3u hi\u1ec7n tri\u1ec7u ch\u1ee9ng trong m\u1ed9t s\u1ed1 tr\u01b0\u1eddng h\u1ee3p. + So s\u00e1nh Down do chuy\u1ec3n \u0111o\u1ea1n v\u00e0 Down do trisomy\u00a0<\/span><\/p>\n

      – C\u00e1c h\u1ed9i ch\u1ee9ng XO, XXY: Nguy\u00ean nh\u00e2n, c\u01a1 ch\u1ebf, h\u1eadu qu\u1ea3.\u00a0<\/span><\/p>\n

      – Ph\u00e2n bi\u1ec7t c\u00e1c b\u1ec7nh l\u01b0\u1ee1ng gi\u1edbi gi\u1ea3 nam.\u00a0<\/span><\/p>\n

        \n
      1. S\u1ef1 di truy\u1ec1n m\u1ed9t s\u1ed1 t\u00ednh tr\u1ea1ng \u0111i\u1ec3n h\u00ecnh:\u00a0<\/b><\/li>\n<\/ol>\n

        – Di truy\u1ec1n nh\u00f3m m\u00e1u ABO:\u00a0<\/span><\/p>\n

        + C\u01a1 s\u1edf ph\u00e2n bi\u1ec7t c\u00e1c nh\u00f3m m\u00e1u\u00a0<\/span><\/p>\n

        + Vai tr\u00f2 c\u1ee7a locus I v\u00e0 locus H trong s\u1ef1 di truy\u1ec1n c\u00e1c nh\u00f3m m\u00e1u\u00a0<\/span><\/p>\n

        + C\u01a1 s\u1edf di truy\u1ec1n h\u00ecnh th\u00e0nh kh\u00e1ng nguy\u00ean tr\u00ean b\u1ec1 m\u1eb7t t\u1ebf b\u00e0o h\u1ed3ng c\u1ea7u c\u1ee7a ng\u01b0\u1eddi c\u00f3 nh\u00f3m\u00a0 m\u00e1u A, AB, B, O.\u00a0<\/span><\/p>\n

        + Ph\u00e2n bi\u1ec7t nh\u00f3m m\u00e1u O b\u00ecnh th\u01b0\u1eddng v\u00e0 O Bombay.\u00a0<\/span><\/p>\n

        – Di truy\u1ec1n nh\u00f3m m\u00e1u Rhesus\u00a0<\/span><\/p>\n

        + C\u01a1 s\u1edf di truy\u1ec1n c\u1ee7a t\u00ednh \u0111a h\u00ecnh c\u00e1c nh\u00f3m m\u00e1u Rhesus\u00a0<\/span><\/p>\n

        + S\u1ef1 \u0111\u00e1p \u1ee9ng mi\u1ec5n d\u1ecbch c\u1ee7a ng\u01b0\u1eddi m\u1eb9 \u00e2m t\u00ednh Rh khi mang thai con d\u01b0\u01a1ng t\u00ednh Rh (s\u01a1 c\u1ea5p,\u00a0 th\u1ee9 c\u1ea5p).\u00a0<\/span><\/p>\n

        – Ph\u00e2n t\u00edch c\u01a1 s\u1edf di truy\u1ec1n c\u1ee7a s\u1ef1 \u0111a d\u1ea1ng c\u00e1c kh\u00e1ng th\u1ec3 \u1edf ng\u01b0\u1eddi\u00a0<\/span><\/p>\n

        – Di truy\u1ec1n ung th\u01b0:\u00a0<\/span><\/p>\n

        + Vai tr\u00f2 c\u1ee7a y\u1ebfu t\u1ed1 di truy\u1ec1n (\u0111\u1ed9t bi\u1ebfn gene, \u0111\u1ed9t bi\u1ebfn nhi\u1ec5m s\u1eafc th\u1ec3,\u2026) v\u00e0 y\u1ebfu t\u1ed1 m\u00f4i tr\u01b0\u1eddng\u00a0 (ch\u1ebf \u0111\u1ed9 sinh ho\u1ea1t, virus, m\u00f4i tr\u01b0\u1eddng s\u1ed1ng,\u2026) \u0111\u1ed1i v\u1edbi vi\u1ec7c h\u00ecnh th\u00e0nh ung th\u01b0. + \u0110\u1eb7c \u0111i\u1ec3m di truy\u1ec1n v\u00e0 vai tr\u00f2 c\u1ee7a gene sinh ung th\u01b0 (oncogenes) v\u00e0 c\u00e1c gene \u1ee9c ch\u1ebf kh\u1ed1i u\u00a0 (tumor-supressor genes) trong h\u00ecnh th\u00e0nh ung th\u01b0 \u1edf ng\u01b0\u1eddi. Li\u1ec7t k\u00ea m\u1ed9t s\u1ed1 oncogenes v\u00e0 tumor supressor genes \u1edf ng\u01b0\u1eddi.\u00a0<\/span><\/p>\n

        + <\/b>C\u01a1 ch\u1ebf g\u00e2y ung th\u01b0 v\u00f5ng m\u1ea1c do \u0111\u1ed9t bi\u1ebfn gene RB \u1edf ng\u01b0\u1eddi.\u00a0<\/span><\/p>\n

        – Di truy\u1ec1n h\u1ec7 th\u1ed1ng HLA\u00a0<\/span><\/p>\n

        + \u0110\u1ecbnh ngh\u0129a h\u1ec7 th\u1ed1ng HLA\u00a0<\/span><\/p>\n

        + C\u01a1 s\u1edf di truy\u1ec1n c\u1ee7a HLA; Ch\u1ee9c n\u0103ng c\u1ee7a HLA\u00a0<\/span><\/p>\n

        + Li\u1ec7t k\u00ea m\u1ed9t s\u1ed1 lo\u1ea1i b\u1ec7nh li\u00ean quan h\u1ec7 th\u1ed1ng HLA\u00a0<\/span><\/p>\n

          \n
        1. Ch\u1ea9n \u0111o\u00e1n tr\u01b0\u1edbc sinh:\u00a0<\/b><\/li>\n<\/ol>\n

          – Ch\u1ea9n \u0111o\u00e1n tr\u01b0\u1edbc sinh th\u01b0\u1eddng \u0111\u01b0\u1ee3c ch\u1ec9 \u0111\u1ecbnh trong nh\u1eefng tr\u01b0\u1eddng h\u1ee3p n\u00e0o – Tr\u00ecnh b\u00e0y n\u1ed9i dung c\u1ee7a c\u00e1c ph\u01b0\u01a1ng ph\u00e1p ch\u1ea9n \u0111o\u00e1n tr\u01b0\u1edbc sinh.\u00a0<\/span><\/p>\n

            \n
          1. B\u00e0i t\u1eadp:\u00a0<\/b><\/li>\n<\/ol>\n

            – Bi\u1ec7n lu\u1eadn quy lu\u1eadt di truy\u1ec1n; X\u00e2y d\u1ef1ng gia h\u1ec7 t\u1eeb t\u00ecnh hu\u1ed1ng, bi\u1ec7n lu\u1eadn quy lu\u1eadt di truy\u1ec1n d\u1ef1a\u00a0 tr\u00ean c\u00e2y gia h\u1ec7 \u0111\u00e3 \u0111\u01b0\u1ee3c l\u1eadp.\u00a0<\/span><\/p>\n

            – T\u00ednh to\u00e1n t\u1ef7 l\u1ec7 b\u1ec7nh th\u1ef1c t\u1ebf trong tr\u01b0\u1eddng h\u1ee3p c\u00f3 t\u00ednh th\u1ea5m\u00a0<\/span><\/p>\n

            – M\u00f4 t\u1ea3 \u0111\u1eb7c \u0111i\u1ec3m b\u1ed9 NST qua c\u00f4ng th\u1ee9c karyotype\u00a0<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"

            M\u1ed8T S\u1ed0 V\u1ea4N \u0110\u1ec0 V\u1ec0 DTYH\u00a0 Ph\u1ea7n 1: C\u01a1 s\u1edf di truy\u1ec1n v\u00e0 ph\u01b0\u01a1ng ph\u00e1p nghi\u00ean c\u1ee9u\u00a0 So s\u00e1nh \u0111\u1eb7c \u0111i\u1ec3m c\u1ee7a qu\u00e1 tr\u00ecnh sao ch\u00e9p DNA, phi\u00ean m\u00e3, d\u1ecbch m\u00e3 DNA \u1edf Prokaryotes v\u00e0\u00a0 Eukaryotes.\u00a0 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 …<\/p>\n","protected":false},"author":23,"featured_media":4523,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[33],"tags":[],"class_list":["post-2963","post","type-post","status-publish","format-standard","has-post-thumbnail","","category-di-truyen-y-hoc"],"_links":{"self":[{"href":"https:\/\/ykhoataynguyen.com\/site\/wp-json\/wp\/v2\/posts\/2963","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=2963"}],"version-history":[{"count":3,"href":"https:\/\/ykhoataynguyen.com\/site\/wp-json\/wp\/v2\/posts\/2963\/revisions"}],"predecessor-version":[{"id":4524,"href":"https:\/\/ykhoataynguyen.com\/site\/wp-json\/wp\/v2\/posts\/2963\/revisions\/4524"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/ykhoataynguyen.com\/site\/wp-json\/wp\/v2\/media\/4523"}],"wp:attachment":[{"href":"https:\/\/ykhoataynguyen.com\/site\/wp-json\/wp\/v2\/media?parent=2963"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ykhoataynguyen.com\/site\/wp-json\/wp\/v2\/categories?post=2963"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ykhoataynguyen.com\/site\/wp-json\/wp\/v2\/tags?post=2963"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}