NGHIÊN CỨU TẦN SỐ KIỂU GEN, TẦN SỐ ALEN ĐA HÌNH CYP2E1*5B VÀ CYP2E1*7B Ở NHÓM NGƯỜI VIỆT NAM SINH SỐNG TẠI MỘT SỐ TỈNH PHÍA BẮC

NGHIÊN CỨU TẦN SỐ KIỂU GEN, TẦN SỐ ALEN ĐA HÌNH CYP2E15B VÀ CYP2E17B Ở NHÓM NGƯỜI VIỆT NAM SINH SỐNG TẠI MỘT SỐ TỈNH PHÍA BẮC

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Tác giả: Thị Thu Hương Bùi, Thị Thu Yến Hoàng, Phương Thảo Nguyễn, Thị Yến Nguyễn

Ngôn ngữ: vie

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Thông tin xuất bản: Tạp chí Khoa học và Công nghệ - Đại học Thái Nguyên, 2023

Mô tả vật lý: tr.211-218

Bộ sưu tập: Metadata

ID: 339657

Thêm vào giỏ Liên kết toàn văn

CYP2E1 (cytochrome P450 family 2 subfamily E member 1) chuyển hóa ethanol thành acetaldehyde và các loại oxy phản ứng có thể gây nên các tổn thương gan và nguy cơ phát triển ung thư gan ở người nghiện rượu. Alen CYP2E1*5 T và CYP2E1*7B T đa hình CYP2E1*5B (C-1053T
rs2031920/ rs3813867) và CYP2E1*7B (G-71T
rs6413420) thuộc vùng điều khiển (5’-flanking region) của gen CYP2E1 đã được chứng minh có vai trò tăng cường quá trình phiên mã của gen CYP2E1. Trong nghiên cứu này, chúng tôi nghiên cứu tần số kiểu gen, tần số alen đa hình CYP2E1*5B và CYP2E1*7B ở 96 cá thể người Việt Nam đến kiểm tra sức khỏe và điều trị tại Bệnh viện Trung ương Thái Nguyên bằng phương pháp xác định và phân tích trình tự nucleotide. Trong 96 cá thể nghiên cứu, đa hình CYP2E1*5B có 65 cá thể có kiểu gen đồng hợp tử kiểu dại CYP2E1*5B CC với tỷ lệ cao nhất 67,71%
29 cá thể có kiểu gen dị hợp tử đột biến CYP2E1*5B CT đứng thứ 2, chiếm 30,21%
kiểu gen đồng hợp tử đột biến CYP2E1*5B TT có tỷ lệ thấp nhất 2,083% với 2 trường hợp. Tần số alen của biến thể đột biến CYP2E1*5B T trong quần thể nghiên cứu là không nhỏ, chiếm 17,2%. Trong khi, CYP2E1*7B không đa hình, 100% cá thể có kiểu gen đồng hợp CYP2E1*7B GG. Do đó, sự chuyển hóa ethanol ở nhóm cá thể trong nghiên cứu không bị ảnh hưởng bởi đa hình CYP2E1*7B, trong khi CYP2E1*5B có tính đa hình có sự khác biệt về khả năng biểu hiện của gen CYP2E1. Nghiên cứu này đặt ra vấn đề cần nghiên cứu mối liên quan của đa hình CYP2E1*5B ở nhóm cá thể những người sinh sống tại các tỉnh phía Bắc nghiện rượu và mắc các bệnh liên quan.Cytochrome P450 family 2 subfamily E member 1 (CYP2E1) converts ethanol to acetaldehyde and reactive oxygen species that can cause liver damage and develope liver cancer in alcoholics. CYP2E1*5B T, CYP2E1*7B T of CYP2E1*5B (C-1053T
rs2031920/rs3813867) and CYP2E1*7B polymorphisms (G-71T
rs6413420) belong to the regulation region (5’-flanking region) is thought to enhance in CYP2E1 gene transcription. In this study, we determined allele and genotype frequency of CYP2E1*5B and CYP2E1*7B in 96 Vietnamese individuals for health checking and treatment at Thai Nguyen national hospital by identifying and nucleotide sequence analyzing. In 96 research individuals, 65 individuals were for the wild homozygous genotype CYP2E1*5B CC with the highest rate of 67.71%
29 individuals with heterozygous genotype CYP2E1*5B CT ranked second, accounting for 30.21%, mutant homozygous genotype CYP2E1*5B TT has the lowest rate of 2.083% with 2 cases. The allele frequency of the mutant variant CYP2E1*5B T in the study population isn’t small (17.2%). While, CYP2E1*7B is not polymorphic, 100% of individuals have wild homozygous genotype CYP2E1*7B GG. Thus, ethanol metabolism in this study population was not affected by the CYP2E1*7B polymorphism, while CYP2E1*5B could have differences in the expression of the CYP2E1 gene. This study highlights the need to study the relationship of CYP2E1*5B polymorphisms in alcholism Vietnamese living in the northern provinces and suffer from related diseases.

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