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目的 调查HIV-1感染相关的等位基因CCR5A32、CCR2b-64I和SDF1-3A在我国新疆维吾尔族人群中的频率和多态性分布。方法 随机采集血样,提取基因组DNA。经PCR或PCR-RFLP分析,计算突变基因频率;并对其群体分布、性别分布和三者的相关性进行统计分析。结果 CCR5△32频率为3.48%,CCR2b-64I为19.45%,SDF1-3A为20.41%。三种突变等位基因群体分布均符合Hardy-Weinberg平衡,性别之间无差异;任何两个基因之间也未发现连锁性。结论 维吾尔族人的SDF1-3A基因突变频率接近于高加索人,CCR2b-64I基因频率则与汉族人相似,CCR5△32高于汉族人低于高加索人,与中亚地区少数民族接近。在维吾尔族人群中以上三种等位基因与艾滋病发病机制和临床预后的关系有待进一步阐明。
Objective To investigate the frequency and polymorphism distribution of HIV-1-related alleles CCR5A32, CCR2b-64I and SDF1-3A in Xinjiang Uygur population. Methods Blood samples were collected randomly and genomic DNA was extracted. The frequency of the mutant gene was calculated by PCR or PCR-RFLP analysis. The population distribution, gender distribution and the correlation between them were statistically analyzed. Results The frequency of CCR5 △ 32 was 3.48%, CCR2b-64I was 19.45%, and SDF1-3A was 20.41%. The distributions of the three mutant alleles were in accordance with the Hardy-Weinberg equilibrium with no difference between the sexes; no linkage was found between any two genes. Conclusions The frequency of SDF1-3A mutation in Uighur people is close to Caucasians. The frequency of CCR2b-64I gene is similar to that of Han people. CCR5Δ32 is higher than that of Han people and lower than that of Caucasians, which is close to that of ethnic minorities in Central Asia. The relationship between the above three alleles and the pathogenesis and clinical prognosis of AIDS in Uighur population needs to be further elucidated.