人类免疫缺陷病毒1感染相关的基因多态性在中国汉族人群中的分布  

Distribution of HIV resistance CCR5-delta32, CCR2-64I and SDF1-3'A alleles and their polymorphisms in the Han population in China

作　　者：王福生[1] 金磊[1] 雷周云[1] 施红[1] 洪卫国[1] 徐东平[1] 施明[1] 蒋建东 汪悦 张冰[1] 刘明旭[1] 李跃旗[1] 

机构地区：[1]解放军第三○二医院生物工程研究室,北京100039 [2]美国纽约西奈山医学院肿瘤研究中心

出　　处：《中华流行病学杂志》2000年第4期256-260,共5页Chinese Journal of Epidemiology

基　　金：国家自然科学基金资助!(39770683)

摘　　要：目的　调查中国汉族人群中人类免疫缺陷病毒 1(HIV 1)感染相关的CCR5△ 32、CCR2 6 4I和SDF1 3’A等位基因突变频率和多态性的特点。方法　以 12 5 1例汉族人群为研究对象 ,应用PCR、PCR/RFLP(聚合酶链反应 /限制性片段长度多态性分析 )和DNA直接测序等方法进行检测 ,并用统计学方法进行分析。结果　发现中国汉族人群中存在CCR5△ 32等位基因突变 (均为杂合子基因型 ) ,突变频率为 0 .0 0 119,和西欧及美国白人相比 ,中国人群中CCR5△ 32基因突变频率极低 ,而CCR2 6 4I和SDF1 3’A基因突变频率相对较高 ,分别为 0 .2 0 0 2 3和 0 .2 872 3。结论　中国汉族人群的CCR5△ 32、CCR2 6 4I和SDF1 3’A等位基因的突变和多态性特点 ,具有一定的代表性。由于CCR5△ 32突变率低 ,中国汉族人群对性接触传播的HIV 1病毒 (R5 )Objective To study the frequency and polymorphism of three mutations (CCR5△32,CCR264I and SDF13'A alleles) conferring resistance to determined HIV1/AIDS in the indigenous Han population in China. Methods The study population included 1 267 subjects, of which consisted 98.7 % ( 1 251 / 1 267 ) Han people. The genotypes of the three mutations were respectively, detected by polymerase chain reaction(PCR) for CCR5△32 mutation, or by PCR/RFLP(restriction fragment length polymorphism) assay with the digestion of restriction endonuclease Bsa BI and Msp I for CCR264I and SDF13'A mutations. DNA sequencing was empolyed to confirm the accracy of PCR or PCR/RFLP products. Results The frequency of the mutant alleles were: 0.001 19 for CCR5△32; 0.200 23 for CCR264I, and 0.287 23 for SDF13'A. The three heterozygous CCR5wt/△32 mutants were identified and no homozygotes were detected in indigenous Han population. The frequencies of CCR264I and SDF13'A alleles in China were higher than those of Caucasians descents in the USA and Europe. Conclusion Our data was the first findings on the frequency and polymorphism of CCR5△32, CCR264I and SDF13'A alleles in indigenous Han population in China which implied that the indigenous Han people might have a higher genetic susceptibility to the infection of sexually transmitted HIV1 (R5) strain. Further study is needed to clarify the significance of higher frequency of CCR264I and SDF13'A alleles in Han population.

关 键 词：趋化因子受体 HIV-1 基因突变 基因多态性 

分 类 号：R373[医药卫生—病原生物学]