中国汉族人群CYP2D6、CYP3A4 SNP位点基因多态性分析

Analysis of SNP genetic polymorphism in CYP3A4 and CYP2D6 in Chinese Han population

摘要:

目的：通过对药物代谢酶CYP2D6和CYP3A4的相关单核苷酸多态性（single nucleotide polymorphism，SNP）筛选检测，获得其在中国汉族人群中遗传多态性分布的相关数据。方法：筛选11个关于CYP2D6、CYP3A4基因的SNP位点，取192份中国汉族无关个体健康自愿者的血液样本获得基因组DNA，根据单碱基延伸技术通过 GenomeLabTM SNPstreamR 基因分型系统进行SNP分型。结果：本次检测的11个SNP位点在研究人群中全部具有多态性（最小等位基因频率>0.01），其中7个SNP（RS28624811、RS28670611、RS9623531、RS5758589、RS3735451、RS2246709、RS2404955、RS4646440）位点的等位基因频率在此人群与白种人相比差异具有统计学意义（P<0.01）。结论：汉族人群可能有继承特定的遗传信息，导致与其他人群具有不同药物代谢率。

Abstract:

Objective：To get the data of genetic polymorphism in the Chinese Han population through screening and detecting drug-metabolizing enzyme CYP2D6 and CYP3A4 single nucleotide polymorphism（SNP）. Methods：Eleven SNP in these 2 CYP genes were screened out. Genomic DNA was prepared from 192 blood samples obtained from individuals of Chinese Han origin. Polymor－phism was analyzed by allele-specific pr1imer extension followed by GenomeLabTM SNPstreamR analysis system. Results：All 11 ana－lyzed SNP were polymorphic（MAF>0.01）. Of these 11 SNP，7（RS28624811，RS28670611，RS9623531，RS5758589，RS3735451，RS2246709，RS2404955，RS4646440） had an allele frequency，which was different between Chinese Han population and Caucasians（P<0.01）. Conclusions：These data suggest that different ethnic groups might inherit specific genetic information that could lead to different drug metabolism rates.