10 KHÁM PHÁ VỀ BỘ GEN NGƯỜI.
Bộ gen người là tất cả vật liệu di truyền của một người, được truyền từ thế hệ này sang thế hệ khác. Bộ gen chứa các gen, các gen được cấu tạo bởi một chất hóa học gọi là ADN. Các gen lại được đóng gói trong nhiễm sắc thể môt cách gọn gàng, có tổ chức và nhỏ gọn. Các nhiễm sắc thể nằm ở trong nhân tế bào, mỗi nhân tế bào có 23 cặp nhiễm sắc thể.
Các nhà nghiên cứu thực hiện thành công các dự án bộ gen người nhằm xác định trình tự ADN của toàn bộ hệ gen. Điều này giúp con người có thể tự hào vì đã khám phá nơi được coi là nguồn gốc của sự sống, là bước tiến vượt bậc của y sinh học. Gen là một cuốn sách lịch sử, một câu chuyện kể về cuộc hành trình của loài người qua thời gian. Đó còn là một hướng dẫn cực kỳ chi tiết cho việc xây dựng nên mỗi tế bào của con người.
Dự án bộ gen người đã thúc đẩy sự phát hiện của hơn 1.800 gen bệnh, nguyên nhân bệnh tật sẽ được biết tường tận đến mức phân tử, cung cấp quyền năng to lớn cho con người trong việc tìm nguyên nhân, chẩn đoán, điều trị và tiên lượng bệnh tật.
10 SỰ THẬT VỀ BỘ GEN
- Ngày 28/2/1953, Francis Crick và James Watson đã tìm ra cấu trúc của ADN. Cấu trúc đó là một “xoắn kép”, có thể “giải nén” riêng thành hai sợi dài để làm ra các bản sao của chính nó. Phát hiện này đã khẳng định những nghi vấn rằng ADN mang thông tin di truyền của sinh vật.
- Cơ thể con người được tạo thành từ 100 nghìn tỷ tế bào. Mỗi tế bào có ít nhất một nhân, nơi chứa nhiễm sắc thể. Chiều dài của ADN trong nhân mỗi tế bào dài khoảng 1,8 m. Tuy nhiên nó được nén, được xoắn cuộn thật chặt để cuối cùng chỉ còn khoảng 0,0001 cm.
- Có 33 gen bị ngưng hoạt động trong gen người. Khi so sánh ở loài chuột người ta thấy các gen này vẫn hoạt động tốt. 10 trong số 33 gen này có chức năng trong việc sản xuất các protein có chức năng ngửi mùi. Do đó khả năng ngửi mùi của con người còn thua xa loài gặm nhấm.
- Nếu tất cả các ADN trong 100 nghìn tỷ tế bào của cơ thể con người được đặt từ đầu đến cuối, nó sẽ gấp hai lần khoảng cách từ Mặt Trời đến Trái Đất.
- Hầu hết các tế bào người chứa 46 nhiễm sắc thể gồm cặp nhiễm sắc thể từ 1 đến 22 và một cặp nhiễm sắc thể giới tính (nữ có hai nhiễm sắc thể X; nam có một X và một Y).
- Số lượng gen trong bộ gen khác nhau từ loài này sang loài khác. Sinh vật phức tạp hơn có xu hướng có nhiều gen hơn. Vi khuẩn có vài trăm đến vài nghìn gen. Ước tính số lượng gen của con người, ngược lại, dao động từ 25.000 đến 30.000. Chuột cũng có khoảng 20.000 gen; với giun tròn khoảng 19 000. Ở nấm men có khoảng 6000 gen; vi khuẩn lao 4000.
- Hai người khác nhau có bộ gen giống nhau 99,9% và khác nhau về chỉ có 0,1%. Bộ gen người giống 7% với các vi khuẩn E.coli, 21% với sâu, 90% đối với chuột và 98% với tinh tinh.
- Hầu hết các bộ gen được làm từ ADN không mã hoá, đôi khi được gọi là “ADN rác”. Chỉ có khoảng 2% của gen mã hóa protein. Ngày nay các gen rác này được coi là then chốt để phân biệt loài người và các loài khác
- ADN là một phân tử mong manh. Một nguyên nhân gì đó có thể gây ra lỗi trên ADN. Điều này có thể bao gồm các lỗi trong quá trình sao chép, thiệt hại từ tia tử ngoại, hoặc bất kỳ một tác nhân nào khác. Có nhiều cơ chế sửa chữa, nhưng một số thiệt hại là không thể sửa chữa. Điều này dẫn đến các đột biến gen. Một số các đột biến không gây hại, một số ít là hữu ích, trong khi số khác có thể gây ra các bệnh như ung thư và các bệnh di truyền.
- Bộ gen người hoàn chỉnh bao gồm khoảng 3 tỷ phân tử ADN. Nếu bắt đầu đọc thứ tự của các phân tử ADN với tốc độ 100 phân tử mỗi phút thì bạn cần đến 57 năm để có thể đọc hết các phân tử AND của cơ thể mình (với điều kiện không dừng lại để ăn, uống, ngủ, nghỉ, tắm gội…).
. . . . . . .Nguồn : Bác sĩ Lê Nguyễn Khánh Duy – vnexpress
BÍ ẨN VỀ BỘ GEN NGƯỜI
Năm 2000, các nhà khoa học thuộc Dự án gen người quốc tế đã công bố tài liệu về sơ đồ phác thảo bộ gen người khá hoàn chỉnh, cung cấp thông tin về hoạt động của 23.000 gen, giúp loài người tiếp tục hành trình khám phá nguồn gốc chính mình. Theo Tiến sĩ Craig Venter, những thành tựu trong quá trình giải mã bộ gen người sẽ giúp con người hiểu biết về căn nguyên của gen cũng như mối liên hệ mật thiết giữa gen và nguồn bệnh, từ đó có thể phòng ngừa nhiều bệnh nguy hiểm, đóng góp cho y tế dự phòng và giảm chi phí y tế.
GIẢI MÃ BỘ GEN NGƯỜI.
Sau hơn 10 năm nghiên cứu, vào 6/2000, các nhà khoa học Anh và Mỹ tuyên bố họ đã thành công trong việc giải mã các thông tin di truyền, nền tảng tạo nên sự sống cho con người. Sau 7 tháng, cùng một lúc trên hai bờ Đại Tây Dương, những bí ẩn cuối cùng của bộ gen người sẽ được đưa ra ánh sáng.
Nghiên cứu gen người được thực hiện bởi hai nhóm khoa học độc lập: Dự án Gene Người được nhà nước tài trợ do Anh và Mỹ kết hợp và công ty Celera, một công ty nghiên cứu gen tư nhân Mỹ có trụ sở tại Maryland. Kết quả nghiên cứu của Celera sẽ được công bố trên tạp chí Science (Mỹ), trong khi những phát hiện của Dự án Gene Người sẽ có mặt trên tạp chí Nature (Anh).
GIÁ TRỊ TO LỚN
Tại một cuộc họp báo, Tiến sĩ Michael Dexter, Giám đốc của khu nghiên cứu gen Wellcome Trust, (gần Cambridge, Anh), cho biết: “Việc lập bản đồ gen người được so sánh với sự kiện đưa con người lên mặt trăng. Nhưng tôi tin rằng nó còn hơn thế. Đây là những thành tựu tri thức đột phá, không chỉ trong thế hệ chúng ta mà là trong toàn bộ lịch sử của loài người”.
Việc lập bản đồ trình tự hoá học ADN của con người có thể sẽ mở màn cho một cuộc cách mạng trong ngành y học. Dữ liệu thu được từ dự án sẽ giúp các nhà khoa học tìm ra những cách thức mới chữa trị hiệu quả những căn bệnh hiểm nghèo như đái đường, ung thư và thậm chí cả các bệnh về thần kinh.
BA GIAI ĐOẠN TRONG TIẾN TRÌNH LẬP BẢN ĐỒ GEN NGƯỜI
- Nghiên cứu trình tự gen: Các nhà khoa học đã xác định được khoảng 3,5 tỷ ký tự (đơn vị) hoá học (A, C, T, G) tạo nên ADN, nền móng xây dựng nên bộ gen của con người.
- Lắp ráp thành mã gen: xếp những ký tự hoá học theo đúng trình tự, cho phép chúng ta “đọc” được các gen. Theo Tiến sĩ Craig Venter, Chủ tịch hãng Celera, 99 % gen người đã được tìm hiểu và 3,21 tỷ ký tự đã được “lắp ráp”.
- Chú giải gen: Phần việc khó khăn nhất này… vẫn chưa tới. Các nhà khoa học phải xác định được mỗi gen và chức năng của nó. Công đoạn này sẽ cần vài năm để hoàn tất.
MỘT SỐ KẾT LUẬN CHÍNH TRONG NGHIÊN CỨU MÃ GEN NGƯỜI
– Có khoảng 3,1 tỷ ký tự hoá học trong mã ADN của mỗi tế bào người.
– Bốn thành phần bazơ nitơ cơ bản của ADN, thể hiện bằng ký tự A, C, G, T được sắp xếp theo cặp, xây dựng nên tất cả các cơ thể sống. Mỗi nhóm 3 ký tự tương ứng với một amino axit đơn.
– Có 20 loại amino axit khác nhau tạo nên các loại protein như keratin trong tóc và hemoglobin trong máu.
– Con người có khoảng 30.000 gene, ít hơn nhiều so với dự kiến. Trong khi con số này ở giun tròn là 18.000 và ruồi giấm là 13.000.
– Sự khác biệt giữa người và ruồi giấm hay sâu bọ là gen người có cơ chế làm việc khác hẳn và chúng ta có nhiều gen điều khiển.
– Hàng trăm gen dường như có xuất xứ từ các loại vi khuẩn.
– Phần lớn đột biến gen xảy ra trên đàn ông.
– Các nhà khoa học bắt đầu khám phá giá trị của 97% ADN không tham gia mã hoá thông tin tạo nên protein. Họ cho rằng những ADN được coi là “vô nghĩa” này có thể giúp di chuyển gen.
– Có khoảng 1,8 m ADN trong mỗi tế bào, có thể được gói gọn trong một cấu trúc đường kính 0,001 cm.
– Nếu tất cả ADN trong cơ thể người được xếp thành một hàng, con đường này sẽ dài gấp 600 “tua du lịch khứ hồi” từ trái đất tới mặt trời.
– Khác biệt ADN giữa con người với nhau chỉ vào khoảng 0,1 %, hay là 1/500 (ký tự).
. . . . . . . . .Nguồn : Bích Hạnh (theo BBC, 11/2).
MẬT MÃ GEN NGƯỜI : NHẬN ĐỊNH CỦA Y HỌC LƯỢNG TỬ
Dự án Bản đồ gen Người (tiếng Anh: Human Genome Project – HGP) là một dự án nghiên cứu khoa học mang tầm quốc tế. Mục đích chính của dự án là xác định trình tự của các cặp cơ sở (base pairs) tạo thành phân tử DNA và xác định khoảng 25.000 gen trong bộ gen của con người.
Dự án khởi đầu vào năm 1990 do James D. Watson đứng đầu. Bản phác thảo đầu tiên của bộ gen đã được cho ra đời vào năm 2000 và hoàn tất vào năm 2003.
Trong quá trình sử dụng sinh học phân tử (molecular biology) để lập bản đồ gen người, nhân loại đã rất hồ hởi và cho rằng việc làm chủ hệ thống mật mã gen người chỉ là chuyện “đầu hôm sớm mai”. Nếu nắm được hệ thống mật mã gen người, chúng ta hoàn toàn nắm được thông tin của cả tỷ năm tồn tại và phát triển sinh giới, làm chủ vận mệnh và trường sinh bất tử trên cơ sở khống chế tất cả bệnh tật và mọi biến đổi sinh học có hại cho con người.
Tuy nhiên, vào 17-5-2006, dự án bản đồ gen người tuyên bố thành công trên tạp chí Khoa học uy tín Nature, thì nhân loại mới “tẽn tò” vì đối diện với một khối lượng tính toán khổng lồ để giải toàn bộ mật mã gen người : nó đòi hỏi hàng triệu lần dung lượng và tốc độ của tổng cộng các máy tính lớn nhỏ của loài người hiện có. Hi vọng rằng với phát minh về MÁY TÍNH LƯỢNG TỬ có tốc độ và dung lượng phi thường có thể đáp ứng được đề bài toán nan giải của ông thầy giáo khó tính có tên là THIÊN NHIÊN.
Thiên nhiên luôn tỏ ra quá rộng lớn so với cái chúng ta nghĩ (về nó), và nó không thương tiếc ra những bài toán vạn nan đối với con người.Vì vậy mà vẫn phải nói với bí ẩn của mật mã gen người : HÃY ĐỢI ĐẤY.
———-Wambuakim———-
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