中国蒙古族人群中人类免疫缺陷病毒1感染相关的基因多态性的初步研究

目的 调查中国蒙古族人群中与人类免疫缺陷病毒１（ＨＩＶ－１）感染相关的等位基因ＣＣＲ５－△３２、ＣＣＲ２ｂ－６４１和ＳＤＦ１－３′Ａ的频率和多态性分布。方法 随机采集血样，提取基因组ＤＮＡ，经聚合酶链式反应（ＰＣＲ）或聚合酶链式反应－限制性片段长度多态性（ＰＣＲ－ＲＦＬＰ）电泳分析，计算各个突变基因的频率；并对其群体分布、性别分布和三者的相关性进行统计分析，同时与其他已报道的种族人群进行比较。结果

Polymorphisms of chemokine receptor alleles influencing genetic susceptibility to HIV-1 infection in Mongolia population in China

OBJECTIVE: Mutant frequency and polymorphism of HIV-1 resistance CCR5-Delta32, CCR2b-64I and SDF1-3'A alleles were investigated in Chinese population from Mongolian ethnic origin. METHODS: Whole blood samples from 134 Mongolian subjects were collected randomly and their genomic DNA were extracted using Qiagen Blood Kit. Allelic frequency was identified by means of PCR or PCR-RFLP analysis. Allelic polymorphism in population and between sex in the sample as well as correlation of the three genes were analyzed by chi(2) test. RESULTS: The frequencies of the three alleles were as following: CCR5-Delta32 1.1%, CCR2b-64I 24.8% and SDF1-3'A 22.0% respectively. Distribution of the three mutant alleles among the Mongolian population was in accordance with Hardy-Weinberg equilibrium. Statistical analysis showed there was a higher frequency of CCR2b-64I in female than in male subjects (29.2% vs 19.7%). No Statistical difference was found in the allelic frequencies of both CCR5-Delta32 and SDF1-3'A between male and female individuals. CONCLUSION: Compared with the Caucasian American, there were higher frequencies of CCR2b-64I and SDF1-3'A alleles and lower frequency of CCR5-Delta32 allele found in Mongolian population while the factors responsible for the variation of genetic polymorphisms in different ethnic populations need to be clarified.