{"id":1540,"date":"2023-04-07T10:06:20","date_gmt":"2023-04-07T03:06:20","guid":{"rendered":"http:\/\/noithathoaphat.in\/ctv\/?p=1540"},"modified":"2023-04-07T10:06:20","modified_gmt":"2023-04-07T03:06:20","slug":"the-kham-trong-di-truyen","status":"publish","type":"post","link":"http:\/\/noithathoaphat.in\/ctv\/index.php\/2023\/04\/07\/the-kham-trong-di-truyen\/","title":{"rendered":"Th\u1ec3 kh\u1ea3m trong di truy\u1ec1n"},"content":{"rendered":"

1. Th\u1ec3 kh\u1ea3m l\u00e0 g\u00ec?<\/h4>\n

Th\u1ec3 kh\u1ea3m trong di truy\u1ec1n l\u00e0 hi\u1ec7n t\u01b0\u1ee3ng khi m\u1ed9t ng\u01b0\u1eddi c\u00f3 hai ho\u1eb7c nhi\u1ec1u b\u1ed9 t\u1ebf b\u00e0o kh\u00e1c nhau v\u1ec1 m\u1eb7t di truy\u1ec1n trong c\u01a1 th\u1ec3.<\/p>\n

Th\u1ec3 kh\u1ea3m c\u00f3 kh\u1ea3 n\u0103ng x\u1ea3y ra \u1edf m\u1ed9t m\u1ee9c \u0111\u1ed9 nh\u1ecf, kh\u00f4ng \u0111\u00e1ng ch\u00fa \u00fd \u1edf h\u1ea7u h\u1ebft m\u1ecdi ng\u01b0\u1eddi. N\u00f3 x\u1ea3y ra sau khi tinh tr\u00f9ng th\u1ee5 tinh v\u1edbi tr\u1ee9ng, t\u1ea1o th\u00e0nh h\u1ee3p t\u1eed, h\u1ee3p t\u1eed n\u00e0y ph\u00e1t tri\u1ec3n th\u00f4ng qua qu\u00e1 tr\u00ecnh t\u1ebf b\u00e0o ph\u00e2n chia l\u1eb7p \u0111i l\u1eb7p l\u1ea1i. Khi c\u00e1c t\u1ebf b\u00e0o ph\u00e2n chia v\u00e0 nh\u00e2n l\u00ean, ch\u00fang t\u1ea1o ra m\u1ed9t b\u1ea3n sao ch\u00ednh x\u00e1c c\u1ee7a DNA c\u1ee7a ch\u00fang. N\u1ebfu c\u00f3 l\u1ed7i \u1edf b\u1ea5t k\u1ef3 \u0111\u00e2u trong quy tr\u00ecnh n\u00e0y\u2014v\u00ed d\u1ee5: b\u1ea3n sao DNA c\u00f3 l\u1ed7i ho\u1eb7c DNA b\u1ecb ph\u00e2n chia kh\u00f4ng \u0111\u1ec1u, th\u00ec c\u00e1c t\u1ebf b\u00e0o thu \u0111\u01b0\u1ee3c s\u1ebd kh\u00e1c nhau v\u1ec1 m\u1eb7t di truy\u1ec1n. Trong m\u1ed9t s\u1ed1 tr\u01b0\u1eddng h\u1ee3p, t\u1ebf b\u00e0o b\u1ea5t th\u01b0\u1eddng c\u00f3 th\u1ec3 ch\u1ebft \u0111i; nh\u01b0ng, n\u1ebfu n\u00f3 t\u1ed3n t\u1ea1i, k\u1ebft qu\u1ea3 s\u1ebd h\u00ecnh th\u00e0nh th\u1ec3 kh\u1ea3m. N\u1ebfu \u0111i\u1ec1u n\u00e0y x\u1ea3y ra s\u1edbm trong qu\u00e1 tr\u00ecnh ph\u00e1t tri\u1ec3n, th\u00ec c\u00f3 t\u1edbi 50% t\u1ebf b\u00e0o c\u1ee7a m\u1ed9t ng\u01b0\u1eddi c\u00f3 th\u1ec3 l\u00e0 b\u1ea5t th\u01b0\u1eddng, \u0111\u00e2y s\u1ebd l\u00e0 m\u1ee9c \u0111\u1ed9 n\u1eb7ng c\u1ee7a th\u1ec3 kh\u1ea3m. Tuy nhi\u00ean, n\u1ebfu l\u1ed7i x\u1ea3y ra mu\u1ed9n h\u01a1n, th\u00ec m\u1ed9t t\u1ef7 l\u1ec7 nh\u1ecf h\u01a1n c\u00e1c t\u1ebf b\u00e0o s\u1ebd l\u00e0 b\u1ea5t th\u01b0\u1eddng, d\u1eabn \u0111\u1ebfn m\u1ee9c \u0111\u1ed9 kh\u1ea3m th\u1ea5p h\u01a1n. T\u00e1c \u0111\u1ed9ng c\u1ee7a b\u1ec7nh kh\u1ea3m th\u01b0\u1eddng \u0111\u01b0\u1ee3c x\u00e1c \u0111\u1ecbnh b\u1edfi m\u1ee9c \u0111\u1ed9 nghi\u00eam tr\u1ecdng c\u1ee7a l\u1ed7i trong DNA, c\u0169ng nh\u01b0 m\u1ee9c \u0111\u1ed9 c\u1ee7a th\u1ec3 kh\u1ea3m.<\/p>\n

\"\"
H\u00ecnh minh h\u1ecda th\u1ec3 kh\u1ea3m trong di truy\u1ec1n<\/figcaption><\/figure>\n

2. Nguy c\u01a1 c\u1ee7a th\u1ec3 kh\u1ea3m<\/h4>\n

Th\u1ec3 kh\u1ea3m c\u00f3 th\u1ec3 g\u00e2y ra m\u1ed9t s\u1ed1 nguy c\u01a1 cho ng\u01b0\u1eddi b\u1ec7nh. M\u1ed9t s\u1ed1 t\u1ebf b\u00e0o kh\u1ea3m mosaic c\u00f3 th\u1ec3 c\u00f3 c\u00e1c \u0111\u1eb7c t\u00ednh kh\u00e1c bi\u1ec7t so v\u1edbi c\u00e1c t\u1ebf b\u00e0o kh\u00e1c trong c\u00f9ng m\u1ed9t c\u00e1 th\u1ec3, d\u1eabn \u0111\u1ebfn s\u1ef1 kh\u00e1c bi\u1ec7t trong s\u1ef1 ph\u00e1t tri\u1ec3n v\u00e0 ch\u1ee9c n\u0103ng c\u1ee7a c\u00e1c c\u01a1 quan v\u00e0 m\u00f4 t\u1ebf b\u00e0o.<\/p>\n

N\u1ebfu th\u1ec3 kh\u1ea3m x\u1ea3y ra trong qu\u00e1 tr\u00ecnh ph\u00e1t tri\u1ec3n s\u1edbm, n\u00f3 c\u00f3 th\u1ec3 d\u1eabn \u0111\u1ebfn c\u00e1c b\u1ec7nh di truy\u1ec1n nh\u01b0 h\u1ed9i ch\u1ee9ng Down, h\u1ed9i ch\u1ee9ng Turner, h\u1ed9i ch\u1ee9ng Klinefelter v\u00e0 t\u1ed5n th\u01b0\u01a1ng th\u1ea7n kinh. N\u1ebfu th\u1ec3 kh\u1ea3m x\u1ea3y ra trong c\u01a1 th\u1ec3 ng\u01b0\u1eddi l\u1edbn, n\u00f3 c\u00f3 th\u1ec3 g\u00e2y ra c\u00e1c b\u1ec7nh ung th\u01b0.<\/p>\n

C\u00e1c nguy c\u01a1 c\u1ee7a th\u1ec3 kh\u1ea3m c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c gi\u1ea3m thi\u1ec3u ho\u1eb7c lo\u1ea1i b\u1ecf b\u1eb1ng c\u00e1c ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb nh\u01b0 ph\u1eabu thu\u1eadt, ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb b\u1eb1ng thu\u1ed1c ho\u1eb7c ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb b\u1eb1ng tia X \u0111\u1ec3 lo\u1ea1i b\u1ecf ho\u1eb7c gi\u1ea3m thi\u1ec3u s\u1ed1 l\u01b0\u1ee3ng t\u1ebf b\u00e0o kh\u1ea3m mosaic. Tuy nhi\u00ean, c\u00e1c ph\u01b0\u01a1ng ph\u00e1p n\u00e0y c\u00f3 th\u1ec3 kh\u00f4ng ho\u00e0n to\u00e0n lo\u1ea1i b\u1ecf \u0111\u01b0\u1ee3c t\u1ea5t c\u1ea3 c\u00e1c t\u1ebf b\u00e0o kh\u1ea3m mosaic v\u00e0 c\u00e1c nguy c\u01a1 v\u1eabn c\u00f3 th\u1ec3 t\u1ed3n t\u1ea1i. Do \u0111\u00f3, ng\u01b0\u1eddi b\u1ec7nh c\u1ea7n th\u01b0\u1eddng xuy\u00ean ki\u1ec3m tra s\u1ee9c kh\u1ecfe v\u00e0 \u0111i\u1ec1u tr\u1ecb c\u00e1c v\u1ea5n \u0111\u1ec1 s\u1ee9c kh\u1ecfe li\u00ean quan \u0111\u1ec3 gi\u1ea3m thi\u1ec3u c\u00e1c nguy c\u01a1 c\u00f3 th\u1ec3 x\u1ea3y ra.<\/p>\n

3. C\u00e1c x\u00e9t nghi\u1ec7m ph\u00e1t hi\u1ec7n th\u1ec3 kh\u1ea3m<\/h4>\n

C\u00f3 nhi\u1ec1u c\u00e1ch \u0111\u1ec3 ph\u00e1t hi\u1ec7n th\u1ec3 kh\u1ea3m, tuy nhi\u00ean ph\u01b0\u01a1ng ph\u00e1p ph\u00f9 h\u1ee3p s\u1ebd ph\u1ee5 thu\u1ed9c v\u00e0o lo\u1ea1i th\u1ec3 kh\u1ea3m v\u00e0 lo\u1ea1i m\u1eabu \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng. D\u01b0\u1edbi \u0111\u00e2y l\u00e0 m\u1ed9t s\u1ed1 ph\u01b0\u01a1ng ph\u00e1p ph\u1ed5 bi\u1ebfn \u0111\u1ec3 ph\u00e1t hi\u1ec7n th\u1ec3 kh\u1ea3m:<\/p>\n

    \n
  • Karyotyping: Ph\u01b0\u01a1ng ph\u00e1p n\u00e0y li\u00ean quan \u0111\u1ebfn vi\u1ec7c ph\u00e2n t\u00edch c\u00e1c nhi\u1ec5m s\u1eafc th\u1ec3 c\u1ee7a m\u1ed9t m\u1eabu t\u1ebf b\u00e0o ho\u1eb7c m\u00f4 d\u01b0\u1edbi k\u00ednh hi\u1ec3n vi. Karyotyping c\u00f3 th\u1ec3 ph\u00e1t hi\u1ec7n th\u1ec3 kh\u1ea3m \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn s\u1ed1 l\u01b0\u1ee3ng ho\u1eb7c c\u1ea5u tr\u00fac c\u1ee7a nhi\u1ec5m s\u1eafc th\u1ec3.<\/li>\n
  • Lai hu\u1ef3nh quang t\u1ea1i ch\u1ed7 (FISH): FISH l\u00e0 m\u1ed9t k\u1ef9 thu\u1eadt s\u1eed d\u1ee5ng c\u00e1c \u0111\u1ea7u d\u00f2 hu\u1ef3nh quang \u0111\u1ec3 li\u00ean k\u1ebft v\u1edbi c\u00e1c v\u00f9ng c\u1ee5 th\u1ec3 c\u1ee7a DNA. Ph\u01b0\u01a1ng ph\u00e1p n\u00e0y c\u00f3 th\u1ec3 ph\u00e1t hi\u1ec7n b\u1ec7nh kh\u1ea3m li\u00ean quan \u0111\u1ebfn nh\u1eefng thay \u0111\u1ed5i v\u1ec1 s\u1ed1 l\u01b0\u1ee3ng ho\u1eb7c c\u1ea5u tr\u00fac c\u1ee7a nhi\u1ec5m s\u1eafc th\u1ec3 ho\u1eb7c gen c\u1ee5 th\u1ec3.<\/li>\n
  • PCR v\u00e0 gi\u1ea3i tr\u00ecnh t\u1ef1: Nh\u1eefng k\u1ef9 thu\u1eadt n\u00e0y li\u00ean quan \u0111\u1ebfn vi\u1ec7c khu\u1ebfch \u0111\u1ea1i v\u00e0 ph\u00e2n t\u00edch c\u00e1c v\u00f9ng c\u1ee5 th\u1ec3 c\u1ee7a DNA \u0111\u1ec3 ph\u00e1t hi\u1ec7n b\u1ec7nh kh\u1ea3m li\u00ean quan \u0111\u1ebfn nh\u1eefng thay \u0111\u1ed5i trong gen ho\u1eb7c v\u00f9ng gen c\u1ee5 th\u1ec3.<\/li>\n
  • Ph\u00e2n t\u00edch microarray: Ph\u01b0\u01a1ng ph\u00e1p n\u00e0y li\u00ean quan \u0111\u1ebfn vi\u1ec7c ph\u00e2n t\u00edch v\u1eadt li\u1ec7u di truy\u1ec1n trong m\u1eabu t\u1ebf b\u00e0o ho\u1eb7c m\u00f4 b\u1eb1ng microarray, c\u00f3 th\u1ec3 ph\u00e1t hi\u1ec7n nh\u1eefng thay \u0111\u1ed5i v\u1ec1 s\u1ed1 l\u01b0\u1ee3ng ho\u1eb7c c\u1ea5u tr\u00fac c\u1ee7a nhi\u1ec5m s\u1eafc th\u1ec3 ho\u1eb7c gen c\u1ee5 th\u1ec3.<\/li>\n
  • Gi\u1ea3i tr\u00ecnh t\u1ef1 gen th\u1ebf h\u1ec7 m\u1edbi (NGS): NGS l\u00e0 m\u1ed9t k\u1ef9 thu\u1eadt cho ph\u00e9p gi\u1ea3i tr\u00ecnh t\u1ef1 m\u1ed9t l\u01b0\u1ee3ng l\u1edbn v\u1eadt li\u1ec7u di truy\u1ec1n c\u00f9ng m\u1ed9t l\u00fac. Ph\u01b0\u01a1ng ph\u00e1p n\u00e0y c\u00f3 th\u1ec3 ph\u00e1t hi\u1ec7n b\u1ec7nh kh\u1ea3m li\u00ean quan \u0111\u1ebfn nh\u1eefng thay \u0111\u1ed5i trong c\u00e1c gen ho\u1eb7c v\u00f9ng c\u1ee5 th\u1ec3 c\u1ee7a b\u1ed9 gen.<\/li>\n<\/ul>\n

    \u0110i\u1ec1u quan tr\u1ecdng c\u1ea7n l\u01b0u \u00fd l\u00e0 \u0111\u1ed9 nh\u1ea1y v\u00e0 \u0111\u1ed9 \u0111\u1eb7c hi\u1ec7u c\u1ee7a t\u1eebng ph\u01b0\u01a1ng ph\u00e1p c\u00f3 th\u1ec3 kh\u00e1c nhau t\u00f9y thu\u1ed9c v\u00e0o lo\u1ea1i v\u00e0 m\u1ee9c \u0111\u1ed9 kh\u1ea3m \u0111\u01b0\u1ee3c ph\u00e1t hi\u1ec7n. Ngo\u00e0i ra, c\u00e1c ph\u01b0\u01a1ng ph\u00e1p kh\u00e1c nhau c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng cho c\u00e1c m\u00f4 ho\u1eb7c t\u1ebf b\u00e0o kh\u00e1c nhau v\u00e0 nhi\u1ec1u ph\u01b0\u01a1ng ph\u00e1p c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng \u0111\u1ec3 x\u00e1c nh\u1eadn ch\u1ea9n \u0111o\u00e1n th\u1ec3 kh\u1ea3m.<\/p>\n","protected":false},"excerpt":{"rendered":"

    1. Th\u1ec3 kh\u1ea3m l\u00e0 g\u00ec? Th\u1ec3 kh\u1ea3m trong di truy\u1ec1n l\u00e0 hi\u1ec7n t\u01b0\u1ee3ng khi m\u1ed9t ng\u01b0\u1eddi c\u00f3 hai ho\u1eb7c nhi\u1ec1u b\u1ed9 t\u1ebf b\u00e0o kh\u00e1c nhau v\u1ec1 m\u1eb7t di truy\u1ec1n trong c\u01a1 th\u1ec3. Th\u1ec3 kh\u1ea3m c\u00f3 kh\u1ea3 n\u0103ng x\u1ea3y ra \u1edf m\u1ed9t m\u1ee9c \u0111\u1ed9 nh\u1ecf, kh\u00f4ng \u0111\u00e1ng ch\u00fa \u00fd \u1edf h\u1ea7u h\u1ebft m\u1ecdi ng\u01b0\u1eddi. N\u00f3 x\u1ea3y […]<\/p>\n","protected":false},"author":11,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[33,14],"tags":[3],"yoast_head":"\nTh\u1ec3 kh\u1ea3m trong di truy\u1ec1n - Vinmec<\/title>\n<meta name=\"description\" content=\"Th\u1ec3 kh\u1ea3m l\u00e0 m\u1ed9t hi\u1ec7n t\u01b0\u1ee3ng di truy\u1ec1n m\u00e0 m\u1ed9t s\u1ed1 t\u1ebf b\u00e0o trong c\u01a1 th\u1ec3 c\u00f3 h\u1ec7 gen kh\u00e1c bi\u1ec7t so v\u1edbi c\u00e1c t\u1ebf b\u00e0o c\u00f2n l\u1ea1i trong c\u00f9ng m\u1ed9t c\u00e1 th\u1ec3.\" \/>\n<meta name=\"robots\" content=\"noindex, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Th\u1ec3 kh\u1ea3m trong di truy\u1ec1n - Vinmec\" \/>\n<meta property=\"og:description\" content=\"Th\u1ec3 kh\u1ea3m l\u00e0 m\u1ed9t hi\u1ec7n t\u01b0\u1ee3ng di truy\u1ec1n m\u00e0 m\u1ed9t s\u1ed1 t\u1ebf b\u00e0o trong c\u01a1 th\u1ec3 c\u00f3 h\u1ec7 gen kh\u00e1c bi\u1ec7t so v\u1edbi c\u00e1c t\u1ebf b\u00e0o c\u00f2n l\u1ea1i trong c\u00f9ng m\u1ed9t c\u00e1 th\u1ec3.\" \/>\n<meta property=\"og:url\" content=\"http:\/\/noithathoaphat.in\/ctv\/index.php\/2023\/04\/07\/the-kham-trong-di-truyen\/\" \/>\n<meta property=\"og:site_name\" content=\"Vinmec\" \/>\n<meta property=\"article:published_time\" content=\"2023-04-07T03:06:20+00:00\" \/>\n<meta property=\"og:image\" content=\"http:\/\/noithathoaphat.in\/ctv\/wp-content\/uploads\/2023\/04\/Screenshot-2023-04-06-at-22.14.40-300x278.png\" \/>\n<meta name=\"author\" content=\"Phu Pham\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"Phu Pham\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"4 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"http:\/\/noithathoaphat.in\/ctv\/index.php\/2023\/04\/07\/the-kham-trong-di-truyen\/\",\"url\":\"http:\/\/noithathoaphat.in\/ctv\/index.php\/2023\/04\/07\/the-kham-trong-di-truyen\/\",\"name\":\"Th\u1ec3 kh\u1ea3m trong di truy\u1ec1n - 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