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  • Công bố khoa học và công nghệ Việt Nam

Di truyền học người

Vũ Phương Nhung, Nguyễn Đăng Tôn(1), Nông Văn Hải, Nguyễn Hải Hà

Đa dạng di truyền một số gen dược học

Tạp chí Công nghệ Sinh học - Viện Khoa học và Công nghệ Việt Nam

2020

3

393-416

1811-4989

Biến thể, Di truyền, Dược học, Gen dược học, Giải trình tự gen, Y học cá thể

Di truyền là yếu tố đóng vai trò quan trọng nhất góp phần tạo ra sự khác biệt trong đáp ứng thuốc cá nhân. Đa dạng di truyền các gen dược học có thể dẫn đến kết quả điều trị không mong muốn hoặc thậm chí gặp phải các phản ứng có hại của thuốc. Các gen dược học mã hóa cho các protein thuộc 3 nhóm chức năng chính enzyme chuyển hóa thuốc, protein vận chuyển thuốc và các thụ thể là đích tác dụng của thuốc. Các biến thể di truyền của các gen mã hóa cho các enzyme chuyển hóa thuốc pha I (CYP450), pha II (GSTs, UGT, TPMT) và các protein vận chuyển (ABC, SLCO) đã được nghiên cứu rộng rãi ở nhiều quần thể người, phần lớn các biến thể ở dạng SNPs. Ngoài ra, ảnh hưởng của một số biến thể phổ biến đến đáp ứng thuốc cũng đã được làm rõ. Mặt khác, thông tin về các biến thể thuộc nhóm gen mã hóa cho các thụ thể là đích tác dụng của thuốc cũng như ảnh hưởng sinh lý của các biến thể này vẫn còn rất hạn chế. Trong những năm gần đây, sự phát triển của công nghệ giải trình tự gen thế hệ mới cùng với các công cụ tin sinh học đã thúc đẩy mạnh mẽ lĩnh vực nghiên cứu di truyền dược học với khả năng phát hiện các biến thể mới và hiếm. Dữ liệu về biến thể di truyền của các gen dược học là những thông tin quý báu trong việc xác định kiểu hình chuyển hóa thuốc, tạo tiền đề trong tối ưu liều thuốc và dần tiến tới nền y học cá thể hóa trong tương lai.

TTKHCNQG, CVv 262

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