中国汉族人群中艾滋病相关的CCR2-64I和CCR5-C927T等位基因的多态性分析

Frequency and Polymorphism of CCR2 - 641 and CCR5 - C927T Alleles Conferring Resistance to HIV - 1 Infection in Chinese Han Population

目的 调查中国汉族人群中艾滋病相关的CCR2-64I和CCR5-C927T等位基因突变频率和多态性特点。方法 用试剂盒提取中国889例汉族人外周血单个核细胞的基因组DNA,随之进行聚合酶链反应/限制性片段长度多态性(PCR/RFLP)技术和DNA直接测序法分析,并对有关的数据进行统计学分析。结果 在检测的889例个体中,野生型CCR2-64I等位基因纯合子(基因型64V/64V)有570例,杂合子(64V/64I)298例,突变纯合子(64I/64I)21例,所占百分比分别是64.1％、33.5％和2.36％,CCR2-64I等位基因突变频率为0.1913。在889份基因样品中,有93例经过CCR5-C927T基因突变检测,结果显示野生型CCR5-C927T纯合子(基因型C/C)为63例,占67.7％;杂合子(C/T)为26例,占28.0％;突变纯合子基因型(T/T)为4例,占4.3％;CCR5-C927T等位基因频率为0.183。统计分析表明在我国汉族人群中,上述两种等位基因多态性呈Hardy-Weinberg平衡分布。结论 本研究首次阐明了土生土长的中国汉族人群中CCR2-64I和CCR5-C927T等位基因突变频率和多态性特点,这一结果将有助于综合评估中国人群对HIV-1感染的遗传易感性,同时为深入研究HIV-1抗性基因在艾滋病发病机制中的作用奠定了基础。

To investigate the frequency and polymorphism of HIV - 1 resistant CCR2 - 64I and CCR5 -C927T alleles in Chinese Han population. Methods The genomic DNA samples were obtained from 889 individuals, ethnically from the Chinese Han origin. PCR/RFLP detection and DNA sequencing were employed to identify the genotypes of CCR2 - 64I and CCR5 - C927T alleles, followed by the statistical analysis. Results 570 of 889 subjects were found to have the wild - type homozygotes (CCR2 - 64V/64V genotype) ; 298 heterozygote (64V/64I genotype) and 21 mutant homozy-gote (64I/64I genotype), accounting for 64.1 %, 33.5% and2.36% of the total, respectively. 93 of 889 subjects were detected for the identification of CCR5 - C927T genotype, 63 subjects were homozygous CCR5 - C927T genotype (C/C); 26 heterozygous C/T genotype and 4 homozygous T/T genotype. The frequencies of CCR2 - 64I and CCR5 - C927T alleles were 0.1913 and 0.183, respectively, and their polymorphism was consistent with the Hardy- Weinberg balanee distribution in Chinese Han population. Conclusion The frequency and polymorphism of CCR2 - 64I and CCR5 - C927T alleles from Chinese Han ethnic origin are different from the data of Caucasian and Europe descents, which is of significance for the evaluation of genetic resistance to HIV- 1 infection and AIDS progression in Chinese Han population.