论文部分内容阅读
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 genotypes and alleles of rs12248560 (-806C> T) SNP rs2548560 of cytochrome P450 2C19 ~ * 17 (CYP2C19 ~ * 17) in Chinese Han and Uygur nationality healthy population in China In the frequency of distribution, and to compare their distribution differences between different races. Methods The genotypes of CYP2C19 ~ * 17 SNP rs12248560 locus in 146 cases of Uygur nationality in Xinjiang and 133 healthy Han people in Xinjiang were detected by PCR amplification products and compared with those of the international human genome haplotype map plan in different countries or regions The region of the site of SNP typing data were compared to analyze the difference between genotype frequency and allele frequency. Results The frequency of allele C and T in healthy Uighur population was 86.3% and 13.7%, respectively, in SNP rs12248560 locus of CYP2C19 * 17 gene. The frequencies of alleles C and T in healthy Han population in Xinjiang Respectively, 99.6%, 0.4%. The genotype frequency and allele frequency distribution of SNP rs12248560 locus in Xinjiang Uygur population were significantly different from those in Xinjiang Han population, and there was significant difference between genotype frequencies of HapMap in Caucasians, black population and yellow population difference. Conclusion CYP2C19 ~ * 17 gene in Xinjiang Uygur population has significant genetic polymorphism. The genotype and allele frequency of rs12248560 locus in Xinjiang Uygur population are significantly different from those in some countries or regions. The difference is significant for CYP2C19 gene Pharmacogenomics and human evolutionary history may play an important role.