新疆汉族和维吾尔族人群细胞色素P450 2C19~* 17基因的单核苷酸多态性研究

Research of single nucleotide polymorphisms on cytochrome P450 2C19~* 17 gene in Han and Uygur population of Xinjiang

目的研究细胞色素P450 2C19~* 17(CYP2C19~* 17)基因单核苷酸多态性(SNP)rs12248560位点(-806C>T)基因型和等位基因在中国新疆汉族和维吾尔族健康人群中的分布频率,并比较其与不同种族间的分布差异。方法用PCR扩增产物直接测序法检测146例新疆维吾尔族和133例新疆汉族健康人群的CYP2C19~* 17基因SNP rs12248560位点的基因型,并与国际人类基因组单倍型图谱计划中不同国家或地区就该位点的SNP分型数据进行比较,分析基因型频率和等位基因频率间的差异。结果 CYP2C19~* 17基因SNP rs12248560位点,在新疆维吾尔族健康人群中C和T的等位基因分布频率分别为86.3%,13.7%;在新疆汉族健康人群中C和T的等位基因分布频率分别为99.6%,0.4%。新疆维吾尔族CYP2C19~* 17基因SNP rs12248560位点的基因型频率和等位基因频率分布与新疆汉族人群存在显著差异;并且与HapMap中高加索人群、黑种人群和黄种人群的基因型频率均存在显著差异。结论新疆维吾尔族人群CYP2C19~* 17基因具有显著的基因多态性,其SNP rs12248560位点基因型和等位基因的分布频率与部分国家或地区人群存在较大差异,该差异对于CYP2C19基因相关的药物基因组学以及人类进化史方面的研究可能起重要作用。

Objective To study the distribution of allele and genotype frequencies of cytochrome P450 （CYP2C19 ＊ 17 （-806C 〉T） with single nucleotide polymorphism ） gene rs12248560 （SNP） in Han and Uygurpopulation of Xinjiang, and compare the difference of CYP2C19 ＊ 17 gene polymorphism among different races. Methods The CYP2C19 ＊ 17 gene SNP loci, rs 12248560 of genotype were detected by PCR and sequencing in healthy people of Chinese Xinjiang Uygur and Hannationality, and the genatypes were compared with other population of countries or regions from Human Genome Project group SNP data, then analyzed the difference in frequencies of genotypes and alleles. Results For CYP2C19 ＊ 17 gene rs 12248560, the allele frequencies of C and T in Uighur healthy populationwere 86.3% and 13.7%, in HaM healthy population were 99.6% and 0. 4%. The genotype and allele frequencies of Uighur healthy population were significantly different compared with HaM healthy poptdationin Xinjiang,Mongolian, Caucasian and melanoderm in HapMap. Conclusion There is significant gene polymorphism of CYP2C19 ＊ 17 in Chinese Xinjiang Uygur nationality, and the distribution of polymorphism is significantly different from someeountries and regions, which could play an important role in the genetics and the progress and development of diseases research.