青海撒拉族人群CYP2C19基因多态性研究

 目的 调查青海撒拉族健康人群中CYP2C19基因型及等位基因的分布特征。方法 采用聚合酶链式反应与限制性内切酶片段长度多态性技术（PCR-RFLP），对99例健康撒拉族人群CYP2C19基因多态性进行分析。结果 撒拉族人群的CYP2C19*1、CYP2C19*2和CYP2C19*3 3种等位基因的发生频率分别为56.6%、29.8%和13.6%；CYP2C19*1/*1、CYP2C19*1/*2、CYP2C19*1/*3、CYP2C19*2/*2和CYP2C19*2/*3基因型出现频率分别为30.3%、36.4%、16.2%、6.1%和11.1%，CYP2C19*3/*3的纯合子基因型在本试验中未发现。结论 青海撒拉族人群 CYP2C19基因分布明显不同于维族、黎族、傣族、白族、畲族、回族和爱尔兰人，而相似于土族、独龙族、苗族、藏族和汉族。

Study on Cytochrome P450 2C19(CYP2C19) Genetic Polymorphism in Qinghai Sala Population

OBJECTIVE To identify the genotype and allele distribution feature of cytochrome P450 2C19(CYP2C19)in Qinghai Sala population.METHODS The CYP2C19 genotypes of 99 healthy Sala population were detected by polymerase chain reaction—restriction fragment length polymorphism(PCR-RFLP)technology.RESULTS In Qinghai Sala population,CYP2C19*1,CYP2C19*2 and CYP2C19*3 allele frequencies were 56.6%,29.8% and 13.6%,respectively;CYP2C19*1/*1,CYP2C19*1/*2,CYP2C19*1/*3,CYP2C19*2/*2 and CYP2C19*2/*3 genotype frequencies were 30.3%,36.4%,16.2%,6.1% and 11.1%,respectively;CYP2C19 * 3 / * 3 homozygous genotype was not found in this study.CONCLUSION The genotype distribution of CYP2C19 in Qinghai Sala population is significantly different to Uigu,Li,Bai,Dai,She,Hui and Iran population,but similar to Tu,Dulong,Miao,Zang and Han population.