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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 )株可能有较大的遗传易感性
Objective To investigate the frequency and polymorphism of the CCR5 △ 32, CCR2 6 4I and SDF1 3’A alleles associated with HIV 1 infection in Chinese Han population. Methods One hundred and fifty-one Han Chinese population were studied by PCR, PCR / RFLP (polymerase chain reaction / restriction fragment length polymorphism) and DNA direct sequencing. The data were analyzed by statistical methods. The results showed that CCR5 △ 32 alleles (all heterozygous genotypes) were found in Chinese Han population and the mutation frequency was 0.010 119. Compared with western European and American white people, the frequency of CCR5 △ 32 gene mutation Low, while the frequencies of CCR2 6 4I and SDF1 3’A gene mutations were relatively high, which were 0.2203 and 0.2872 respectively. Conclusions The mutations and polymorphisms of CCR5 △ 32, CCR2 6 4I and SDF1 3’A alleles in Chinese Han population are representative. Due to the low mutation rate of CCR5 △ 32, the Chinese Han population may have a greater genetic susceptibility to the HIV 1 virus (R5) strain of sexual contact transmission