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  

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

作　　者：杜清友[1] 王福生[1] 洪卫国[1] 刘明旭[1] 金磊[1] 施红[1] 雷周云[1] 额尔敦[2] 

机构地区：[1]北京解放军第三○二医院生物工程研究室,100039 [2]内蒙古呼和浩特市解放军第二五三医院免疫研究室

出　　处：《中华流行病学杂志》2000年第6期413-416,共4页Chinese Journal of Epidemiology

基　　金：国家自然科学基金资助项目!(39770 6 830 )

摘　　要：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 Δ32、CCR2b 6 4I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　等位基因的突变频率分别为CCR5 Δ32 1.1%、CCR2b 6 4I 2 4.8%、SDF1 3′A 2 2 .0 %。三种突变等位基因群体分布均符合Hardy Weinberg平衡 ;CCR2b 6 4I突变频率在性别上的分布有明显差异 (P <0 .1) ,女性的分布频率高于男性 ,而其他两个等位基因在性别之间差异无显著性 ;任何两个基因之间也未发现有相关性。结论　同美国白种人群相比 ,中国蒙古族CCR2b 6 4I和SDF1 3′A等位基因的突变频率比较高 ,与汉族人群的接近 ,而CCR5 Δ32突变频率比美国白人低 ,而比汉族人群的高 。Objective Mutant frequency and polymorphism of HIV 1 resistance CCR5 Δ32、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 corelation of the three genes were analyzed by χ 2 test. Results The frequencies of the three alleles were as following: CCR5 Δ32 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 Δ32 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 Δ32 allele found in Mongolian population while the factors responsible for the variation of genetic polymorphisms in different ethnic populations need to be clearified.

关 键 词：HIV-1协同受体 基因频率 艾滋病 多态性 

分 类 号：R512.91[医药卫生—内科学]