国人CYP2D6*10基因多态性研究

GENE POLYMORPHISMS OF CYP2D6 * 10 IN A CHINESE POPULATION

目的研究较大样本的国人CYP2D6*10的基因多态性,了解C188T位点上的基因型频率和基因突变频率。方法随机选取门诊体检的健康人491例,检测其CYP2D6*0基因多态性。结果 CYP2D6*10基因野生型纯合子C/C、杂合子C/T、突变型纯合子T/T基因型频率分别为16.7%、43.4%、39.9%。C、T等位基因频率分别为38.4%和61.6%。结论 CYP2D6*10等位基因突变频率在东西方不同人群中有显著不同,在东方人和华人人群中大致相同。

Objective This article is to investigate the gene polymorphisms of CYP2D6 ＊ 10,especially about the point mutation of C188T in Chinese people. Methods CYP2D6 ＊ 10 gene polymorphisms were detected in 491 Chinese people by PCR-RFLP method. Results The observed frequencies of the C/C, C/T, T/T genotypes were 16.7 %, 43, 4 %, and 39.9 %, respectively. The frequency of C and T allele was 38. 4% and 61.6%, respectively. Conclusion There was a significant difference between the western and the oriental in gene mutation frequency,hut there were no significant differences in the oriental and Chinese.