{"id":12480,"date":"2018-09-29T16:53:49","date_gmt":"2018-09-29T09:53:49","guid":{"rendered":"https:\/\/yhoccongdong.org\/ung-thu\/giai-trinh-tu-gene-the-he-moi-va-tinh-hinh-o-viet-nam\/"},"modified":"2018-09-29T16:53:49","modified_gmt":"2018-09-29T09:53:49","slug":"giai-trinh-tu-gene-the-he-moi-va-tinh-hinh-o-viet-nam","status":"publish","type":"post","link":"https:\/\/yhoccongdong.com\/ung-thu\/giai-trinh-tu-gene-the-he-moi-va-tinh-hinh-o-viet-nam\/","title":{"rendered":"Gi\u1ea3i tr\u00ecnh t\u1ef1 gene th\u1ebf h\u1ec7 m\u1edbi v\u00e0 t\u00ecnh h\u00ecnh \u1edf Vi\u1ec7t Nam"},"content":{"rendered":"

G\u00f3c nh\u00ecn<\/h2>\n
Trong cu\u1ed1n s\u00e1ch \u201cHomo deus: t\u01b0\u01a1ng lai c\u1ee7a lo\u00e0i ng\u01b0\u1eddi\u201d, t\u00e1c gi\u1ea3 Yuval Harari d\u00e0nh m\u1ed9t ph\u1ea7n kh\u00e1 l\u1edbn th\u1eddi gian \u0111\u1ec3 ph\u00e2n t\u00edch nh\u1eefng \u1ea3nh h\u01b0\u1edfng c\u1ee7a c\u00f4ng ngh\u1ec7 gene \u0111\u1ebfn vi\u1ec7c ch\u0103m s\u00f3c s\u1ee9c kh\u1ecfe, ng\u00e0nh y t\u1ebf v\u00e0 cu\u1ed9c s\u1ed1ng c\u1ee7a con ng\u01b0\u1eddi trong t\u01b0\u01a1ng lai. \u201cCh\u01b0a bao gi\u1edd bi\u1ebft v\u1ec1 b\u1ed9 gene ch\u00ednh m\u00ecnh l\u1ea1i d\u1ec5 d\u00e0ng v\u00e0 r\u1ebb nh\u01b0 th\u1ebf n\u00e0y\u201d. \u0110i\u1ec1u n\u00e0y c\u00f3 \u0111\u01b0\u1ee3c l\u00e0 nh\u1edd v\u00e0o nh\u1eefng ti\u1ebfn b\u1ed9 c\u1ee7a c\u00f4ng ngh\u1ec7 gi\u1ea3i tr\u00ecnh t\u1ef1 gene th\u1ebf h\u1ec7 m\u1edbi v\u1edbi th\u1eddi gian v\u00e0 chi ph\u00ed ng\u00e0y c\u00e0ng gi\u1ea3m.<\/div>\n
Hi\u1ec7n nay, c\u00f4ng ngh\u1ec7 gi\u1ea3i tr\u00ecnh t\u1ef1 gene \u0111ang \u0111\u01b0\u1ee3c \u1ee9ng d\u1ee5ng nhi\u1ec1u \u1edf l\u0129nh v\u1ef1c ch\u1ea9n \u0111o\u00e1n, t\u1ea7m so\u00e1t v\u00e0 ch\u1eefa tr\u1ecb b\u1ec7nh. C\u00e1c thai ph\u1ee5 c\u00f3 th\u1ec3 l\u00e0m nh\u1eefng ch\u1ea9n \u0111o\u00e1n ti\u1ec1n sinh nhanh v\u00e0 ch\u00ednh x\u00e1c h\u01a1n m\u00e0 kh\u00f4ng c\u1ea7n ph\u1ea3i ch\u1ecbu nh\u1eefng r\u1ee7i ro v\u00e0 nguy hi\u1ec3m do ch\u1ecdc \u1ed1i. C\u00e1c b\u1ec7nh di truy\u1ec1n c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c ph\u00e1t hi\u1ec7n s\u1edbm h\u01a1n. V\u1edbi nh\u1eefng b\u1ec7nh di truy\u1ec1n hi\u1ebfm g\u1eb7p, vi\u1ec7c gi\u1ea3i tr\u00ecnh t\u1ef1 b\u1ed9 gene c\u00f3 th\u1ec3 gi\u00fap b\u00e1c s\u0129 t\u00ecm ra nguy\u00ean nh\u00e2n b\u1ec7nh nhanh h\u01a1n. Trong \u0111i\u1ec1u tr\u1ecb, tr\u00ecnh t\u1ef1 DNA c\u1ee7a b\u1ec7nh nh\u00e2n c\u00f3 th\u1ec3 gi\u00fap b\u00e1c s\u0129 \u0111i\u1ec1u tr\u1ecb \u0111i\u1ec1u ch\u1ec9nh ph\u00e1c \u0111\u1ed3 \u0111i\u1ec1u tr\u1ecb ph\u00f9 h\u1ee3p v\u00e0 hi\u1ec7u qu\u1ea3 h\u01a1n.<\/div>\n

C\u00f4ng ngh\u1ec7 gi\u1ea3i tr\u00ecnh t\u1ef1 gene th\u1ebf h\u1ec7 m\u1edbi l\u00e0 g\u00ec, c\u00f3 nh\u1eefng \u01b0u \u0111i\u1ec3m g\u00ec, c\u1ea7n c\u01a1 s\u1edf trang thi\u1ebft b\u1ecb v\u00e0 con ng\u01b0\u1eddi nh\u01b0 th\u1ebf n\u00e0o?<\/strong><\/em><\/h2>\n

Gi\u1ea3i tr\u00ecnh t\u1ef1 gene th\u1ebf h\u1ec7 m\u1edbi (next generation sequencing – NGS); nh\u01b0 t\u00ean g\u1ecdi c\u1ee7a n\u00f3, \u201cth\u1ebf h\u1ec7 ti\u1ebfp theo\u201d l\u00e0 \u0111\u1ec3 ph\u00e2n bi\u1ec7t v\u1edbi ph\u01b0\u01a1ng ph\u00e1p gi\u1ea3i tr\u00ecnh t\u1ef1 th\u1ebf h\u1ec7 \u0111\u1ea7u ti\u00ean do Frederick Sanger ph\u00e1t minh v\u00e0o n\u0103m 1977. V\u00e0o th\u1eddi \u0111i\u1ec3m \u0111\u00f3, ph\u01b0\u01a1ng ph\u00e1p Sanger kh\u00f4ng ph\u1ea3i l\u00e0 duy nh\u1ea5t, nh\u01b0ng hi\u1ec7u qu\u1ea3 v\u00e0 d\u1ec5 s\u1eed d\u1ee5ng h\u01a1n c\u1ea3, n\u00ean r\u1ea5t \u0111\u01b0\u1ee3c \u01b0a chu\u1ed9ng. Trong su\u1ed1t 25 n\u0103m sau \u0111\u00f3, ph\u01b0\u01a1ng ph\u00e1p n\u00e0y li\u00ean ti\u1ebfp \u0111\u01b0\u1ee3c c\u1ea3i ti\u1ebfn v\u00e0 t\u1ef1 \u0111\u1ed9ng h\u00f3a \u0111\u1ec3 ch\u1ebf t\u1ea1o th\u00e0nh m\u00e1y gi\u1ea3i tr\u00ecnh t\u1ef1 (sequencer) th\u1ebf h\u1ec7 \u0111\u1ea7u ti\u00ean v\u00e0 \u0111\u00f3ng vai tr\u00f2 ch\u1ee7 \u0111\u1ea1o trong d\u1ef1 \u00e1n “gi\u1ea3i tr\u00ecnh t\u1ef1 b\u1ed9 gene ng\u01b0\u1eddi” \u0111\u00e3 \u0111\u01b0\u1ee3c c\u00f4ng b\u1ed1 v\u00e0o n\u0103m 2001.<\/p>\n

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\u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0 M\u00e1y HiSeq c\u1ee7a lllumina \u0111ang ho\u1ea1t \u0111\u1ed9ng<\/div>\n<\/div>\n<\/figure>\n
V\u00e0o \u0111\u1ea7u nh\u1eefng n\u0103m 2000, m\u1ed9t lo\u1ea1t c\u00f4ng ngh\u1ec7 m\u1edbi \u0111\u01b0\u1ee3c ph\u00e1t minh ra nh\u1eb1m t\u0103ng n\u0103ng su\u1ea5t v\u00e0 hi\u1ec7u qu\u1ea3 trong vi\u1ec7c gi\u1ea3i tr\u00ecnh t\u1ef1 DNA. Trong s\u1ed1 \u0111\u00f3, ph\u01b0\u01a1ng ph\u00e1p c\u1ee7a c\u00f4ng ty Solexa v\u00e0 sau n\u00e0y \u0111\u01b0\u1ee3c c\u00f4ng ty Illumina mua l\u1ea1i v\u00e0 ph\u00e1t tri\u1ec3n ti\u1ebfp th\u00e0nh m\u1ed9t th\u1ebf h\u1ec7 m\u00e1y gi\u1ea3i tr\u00ecnh t\u1ef1 m\u1edbi. Hi\u1ec7n nay c\u00e1c d\u00f2ng m\u00e1y gi\u1ea3i tr\u00ecnh t\u1ef1 c\u1ee7a Illumina (Miseq, HiSeq, NextSeq,…) l\u00e0 ph\u1ed5 bi\u1ebfn nh\u1ea5t tr\u00ean th\u1ecb tr\u01b0\u1eddng, \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng r\u1ed9ng r\u00e3i trong nghi\u00ean c\u1ee9u c\u01a1 b\u1ea3n g\u1ed3m c\u1ea3 ch\u1ea9n \u0111o\u00e1n v\u00e0 \u0111i\u1ec1u tr\u1ecb.<\/div>\n
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C\u00e1c “s\u1ee3i m\u00ec” DNA \u0111\u01b0\u1ee3c k\u1ebft n\u1ed1i v\u1edbi nhau t\u1eeb c\u00e1c tr\u00ecnh t\u1ef1 A, T, C, G (Ngu\u1ed3n: Internet).<\/div>\n<\/div>\n<\/figure>\n
\u0110\u1ec3 h\u00ecnh dung s\u1ef1 kh\u00e1c nhau c\u01a1 b\u1ea3n trong nguy\u00ean t\u1eafc c\u1ee7a hai ph\u01b0\u01a1ng ph\u00e1p gi\u1ea3i tr\u00ecnh t\u1ef1 n\u00e0y, ch\u00fang ta h\u00e3y nh\u1edb l\u1ea1i m\u1ed9t ch\u00fat v\u1ec1 h\u00ecnh d\u1ea1ng c\u1ee7a ph\u00e2n t\u1eed DNA. N\u1ebfu \u0111\u01b0\u1ee3c ph\u00f3ng \u0111\u1ea1i l\u00ean, s\u1ee3i DNA c\u00f3 h\u00ecnh d\u1ea1ng gi\u1ed1ng s\u1ee3i m\u00ec (h\u00ecnh minh h\u1ecda), nh\u01b0ng thay v\u00ec \u0111\u01b0\u1ee3c c\u1ea5u th\u00e0nh t\u1eeb c\u00e1c \u0111\u01a1n ph\u00e2n l\u00e0 glucose, th\u00ec s\u1ee3i m\u00ec DNA \u0111\u01b0\u1ee3c k\u1ebft n\u1ed1i b\u1edfi h\u00e0ng tri\u1ec7u c\u00e1c ph\u00e2n t\u1eed nucleotide g\u1ecdi t\u1eaft l\u00e0 A, T, C, G (m\u1ed7i ch\u1eef c\u00e1i t\u01b0\u01a1ng \u1ee9ng v\u1edbi m\u1ed9t tr\u00ecnh t\u1ef1). Gi\u1ea3i tr\u00ecnh t\u1ef1 gene l\u00e0 \u0111i t\u00ecm th\u1ee9 t\u1ef1 \u0111\u00fang c\u1ee7a t\u1eebng ph\u00e2n t\u1eed A, T, C, G tr\u00ean m\u1ed9t gene nh\u1ecf ho\u1eb7c trong to\u00e0n b\u1ed9 gene c\u1ee7a sinh v\u1eadt.<\/div>\n
M\u1ed7i t\u1ebf b\u00e0o ng\u01b0\u1eddi (th\u01b0\u1eddng) c\u00f3 46 s\u1ee3i m\u00ec (nhi\u1ec5m s\u1eafc th\u1ec3). L\u1ea5y v\u00ed d\u1ee5 m\u1ed9t s\u1ee3i m\u00ec nh\u1ecf nh\u1ea5t c\u1ee7a ng\u01b0\u1eddi l\u00e0 nhi\u1ec5m s\u1eafc th\u1ec3 th\u1ee9 21, c\u00f3 kho\u1ea3ng 50 tri\u1ec7u tr\u00ecnh t\u1ef1. Trong khi \u0111\u00f3, c\u00e1c ph\u01b0\u01a1ng ph\u00e1p hi\u1ec7n nay ch\u1ec9 gi\u1ea3i \u0111\u01b0\u1ee3c cho m\u1ed9t c\u1ecdng m\u00ec nh\u1ecf x\u00edu c\u00f3 chi\u1ec1u d\u00e0i kho\u1ea3ng 500 \u2013 2000 tr\u00ecnh t\u1ef1 m\u00e0 th\u00f4i. Nh\u01b0 v\u1eady, ng\u01b0\u1eddi ta ph\u1ea3i c\u1eaft nh\u1ecf s\u1ee3i m\u00ec th\u1ee9 21 ra th\u00e0nh 20.000 \u2013 100.000 c\u1ecdng m\u00ec nh\u1ecf \u0111\u1ec3 gi\u1ea3i (con s\u1ed1 c\u00f3 t\u00ednh ch\u1ea5t \u01b0\u1edbc l\u01b0\u1ee3ng, tr\u00ean th\u1ef1c t\u1ebf c\u00f3 th\u1ec3 nhi\u1ec1u h\u01a1n v\u00ec c\u00e1c c\u1ecdng m\u00ec b\u1ecb c\u1eaft ra c\u00f3 th\u1ec3 ch\u1ed3ng l\u00ean nhau v\u00e0 ph\u1ea3i \u0111\u01b0\u1ee3c gi\u1ea3i nhi\u1ec1u l\u1ea7n \u0111\u1ec3 t\u0103ng \u0111\u1ed9 ch\u00ednh x\u00e1c), r\u1ed3i r\u00e1p n\u1ed1i k\u1ebft qu\u1ea3 l\u1ea1i v\u1edbi nhau. M\u1ed7i l\u1ea7n gi\u1ea3i v\u1edbi ph\u01b0\u01a1ng ph\u00e1p Sanger th\u01b0\u1eddng ch\u1ec9 gi\u1ea3i 1 c\u1ecdng m\u00ec nh\u1ecf, n\u00ean chi ph\u00ed kh\u00e1 cao v\u00e0 hi\u1ec7u qu\u1ea3 l\u1ea1i th\u1ea5p. Ng\u01b0\u1ee3c l\u1ea1i, ph\u01b0\u01a1ng ph\u00e1p NGS cho ph\u00e9p x\u1eed l\u00fd h\u00e0ng tri\u1ec7u c\u1ecdng m\u00ec nh\u1ecf c\u00f9ng m\u1ed9t l\u00fac, k\u1ebft qu\u1ea3 \u0111\u01b0\u1ee3c ghi ch\u00e9p v\u00e0 l\u01b0u tr\u1eef d\u01b0\u1edbi d\u1ea1ng d\u1eef li\u1ec7u tin h\u1ecdc. N\u1ebfu so s\u00e1nh vi\u1ec7c gi\u1ea3i tr\u00ecnh t\u1ef1 nh\u01b0 \u0111i c\u00e2u c\u00e1, th\u00ec ph\u01b0\u01a1ng ph\u00e1p Sanger gi\u1ed1ng nh\u01b0 \u0111i c\u00e2u t\u1eebng con c\u00e1, c\u00f2n NGS l\u00e0 qu\u0103ng l\u01b0\u1edbi b\u1eaft c\u1ea3 m\u1ebb l\u1edbn m\u1ed9t l\u1ea7n! V\u00ec v\u1eady, hai \u0111i\u1ec3m m\u1ea1nh c\u1ee7a NGS l\u00e0 r\u00fat ng\u1eafn th\u1eddi gian v\u00e0 gi\u1ea3m gi\u00e1 th\u00e0nh. N\u1ebfu l\u1ea5y tr\u00ean \u0111\u01a1n v\u1ecb l\u00e0 1 tri\u1ec7u tr\u00ecnh t\u1ef1 th\u00ec t\u1ed1n 2400 \u0111\u00f4-la M\u1ef9 v\u1edbi ph\u01b0\u01a1ng ph\u00e1p Sanger v\u00e0 ch\u1ec9 c\u00f3 0.05 – 0.15 \u0111\u00f4-la M\u1ef9 v\u1edbi NGS! M\u1ee9c \u0111\u1ed9 ch\u00eanh l\u1ec7ch qu\u1ea3 th\u1eadt kh\u1ee7ng khi\u1ebfp.<\/div>\n
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V\u1edbi gi\u00e1 th\u00e0nh th\u1ea5p nh\u01b0 v\u1eady, n\u00ean ng\u01b0\u1eddi ta c\u00f3 th\u1ec3 gi\u1ea3i v\u1edbi s\u1ed1 l\u01b0\u1ee3ng nhi\u1ec1u v\u00e0 thu \u0111\u01b0\u1ee3c l\u01b0\u1ee3ng d\u1eef li\u1ec7u r\u1ea5t l\u1edbn. T\u1eeb kho d\u1eef li\u1ec7u n\u00e0y \u0111\u1ebfn k\u1ebft qu\u1ea3 \u0111\u00e1ng tin c\u1eady \u0111\u1ec3 g\u1eedi tr\u1ea3 cho kh\u00e1ch h\u00e0ng l\u00e0 m\u1ed9t \u0111o\u1ea1n \u0111\u01b0\u1eddng d\u00e0i, \u0111\u00f2i h\u1ecfi c\u00e1c ph\u01b0\u01a1ng ph\u00e1p t\u00ednh to\u00e1n h\u1ee3p l\u00fd. V\u00ec v\u1eady, ngo\u00e0i m\u00e1y m\u00f3c v\u00e0 c\u00f4ng ngh\u1ec7, th\u00ec quan tr\u1ecdng l\u00e0 ng\u01b0\u1eddi ph\u00e2n t\u00edch c\u1ea7n c\u00f3 hi\u1ec3u bi\u1ebft trong nhi\u1ec1u l\u0129nh v\u1ef1c: sinh h\u1ecdc, ti\u1ebfn h\u00f3a ph\u00e2n t\u1eed (molecular evolution), tin h\u1ecdc v\u00e0 x\u00e1c su\u1ea5t th\u1ed1ng k\u00ea.<\/div>\n
V\u1edbi c\u00e1ch thi\u1ebft k\u1ebf \u0111a d\u1ea1ng v\u00e0 linh \u0111\u1ed9ng, ph\u01b0\u01a1ng ph\u00e1p gi\u1ea3i tr\u00ecnh t\u1ef1 th\u1ebf h\u1ec7 m\u1edbi c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c bi\u1ebfn \u0111\u1ed5i \u0111\u1ec3 ph\u00f9 h\u1ee3p cho nhi\u1ec1u m\u1ee5c \u0111\u00edch kh\u00e1c nhau. Trong \u1ee9ng d\u1ee5ng, c\u00f3 3 quy tr\u00ecnh ph\u1ed5 bi\u1ebfn nh\u1ea5t:<\/div>\n