摘要
目的探讨CYP3A4和SLCO1B1基因的主要突变位点CYP3A4-392A>G、SLCO1B1 388A>G和521T>C在云南白族人群中的分布情况。方法采用聚合酶链反应(PCR)-直接测序法检测94名健康白族人的CYP3A4-392A>G、SLCO1B1 388A>G和521T>C基因型,用PHASE2.1软件构建SLCO1B1基因单倍型。结果在检测的94名健康白族人中,未发现CYP3A4-392A>G突变个体,所有研究对象均为AA基因型携带者;在检测的90名健康白族人中,SLCO1B1 388A>G的野生型AA、突变杂合子AG、突变纯合子GG基因型频率分别为3.3%,32.2%,64.5%,突变等位基因频率为80.6%;在检测的94名健康白族人中,SLCO1B1 521T>C的野生型TT、突变杂合子TC、突变纯合子CC基因型频率分别为91.5%,7.4%,1.1%,突变等位基因频率为4.8%;在研究的健康白族人群中,主要有SLCO1B1*1a、*1b、*15这3种单倍型,单倍型的频率分别为19.4%,75.6%,5.0%。结论 CYP3A4-392A>G在云南白族人群中未发生突变;云南白族人群SLCO1B1基因多态性分布具有自己的特点,388A>G等位基因突变频率较高,而521T>C等位基因突变频率较低,其存在*1a、*1b、*15这3种单倍型。
Objective To investigate the distribution of CYP3A4-392 A > G,SLCO1B1 388 A > G and 521 T > C in Bai population of Yunnan province.Methods The genotypes of CYP3A4-392 A > G,SLCO1B1 388 A > G and 521 T > C were detected in 94 healthy individuals of Bai by PCR-direct sequencing.Haplotypes of SLCO1B1 were inferred with the PHASE software version 2.1.Results The variant allele frequency of CYP3A4-392 A > G was zero in 94 healthy individuals of Bai.The genotype frequencies of SLCO1B1 388 A > G were 3.3%(AA),32.2%(AG),and 64.5%(GG),respectively,and the variant allele frequency was 80.6% in 90 healthy individuals of Bai.The genotype frequencies of SLCO1B1 521 T > C were91.5%(TT),7.4%(TC) and 1.1%(CC),respectively,and the variant allele frequency was 4.8% in 94 healthy individuals of Bai.SLCO1B1* 1a,* 1b and * 15 haplotypes were observed in Bai population,and the frequencies of them were19.4%,75.6% and 5.0%,respectively.Conclusion CYP3A4-392 A > G mutant is rare in Bai population of Yunnan province.The distribution of SLCO1B1 gene polymorphism is characteristic in Bai population of Yunnan province.The variant allele frequency of SLCO1B1 388 A > G is very high,the variant allele frequency of SLCO1B1 521 T > C is very low,and SLCO1B1* 1a,* 1b and * 15 haplotypes can be observed.
出处
《医药导报》
CAS
2016年第12期1360-1364,共5页
Herald of Medicine
基金
云南省科技厅项目(2010ZC141)
云南省教育厅项目(2010Z005)