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目的 调查 CCR5 Δ32、CCR5 m30 3、CCR2 b- 6 4I和 SDF1- 3′A等人类免疫缺陷病毒 (humanimmune deficiency virus- 1,HIV- 1)相关的等位基因在中国藏族人群中的频率和分布情况。方法 随机采集血样 ,提取基因组 DNA,经 PCR或 PCR- RFL P分析 ,计算突变型基因频率 ,并对其群体分布、性别分布以及其相关性进行统计学分析。结果 发现藏族人的 CCR5 Δ32和 CCR5 m30 3突变型基因频率均小于0 .15 % ;SDF1- 3′A和 CCR2 b- 6 4I突变型基因频率分别为 19.2 4%和 2 9.42 %。 4种突变等位基因群体分布均符合 Hardy- Weinberg平衡 ,性别之间差异无显著性。虽然中国藏族人群 CCR2 b- 6 4I的突变型基因频率较高 ,但 CCR5 Δ32和 SDF1- 3′A的突变型基因频率低 ,提示中国藏族人群很可能在遗传上是 HIV- 1易感的人群。结论 中国藏族人群与西方白人相比可能具有低 CCR5 Δ32和高 CCR2 b- 6 4I等位基因突变频率
Objective To investigate the frequency and distribution of alleles associated with humanimmune deficiency virus-1 (HIV-1) such as CCR5 Δ32, CCR5 m30 3, CCR2 b- 6 4I and SDF1-3’A in Chinese Tibetan population Happening. Methods Blood samples were taken randomly and genomic DNA was extracted. The frequency of mutant genes was calculated by PCR or PCR-RFLP analysis. The population distribution, gender distribution and their correlation were statistically analyzed. The frequencies of CCR5 Δ32 and CCR5 m30 3 mutant genes in Tibetans were less than 0.15%. The frequencies of SDF1-3A and CCR2 b-6 4I mutants were 19.2 4% and 2 9.42%, respectively. The distributions of the four mutant alleles were in accordance with the Hardy-Weinberg equilibrium, with no significant difference between the sexes. Although the frequency of the CCR2 b-6 4I mutation in Chinese Tibetan population is high, the frequencies of the mutant genes of CCR5 Δ32 and SDF1-3’A are low, suggesting that Tibetan populations in China are likely to be genetically HIV-1-susceptible . Conclusions Chinese Tibetans may have lower frequencies of CCR5 Δ32 and CCR2 b-6 4I allele mutations than western whites