中国藏族人群具有低CCR5Δ32、高CCR2b-64I突变型基因频率

Genotyping of HIV resistant alleles in indigenous Tibetan ethnic group of China: low frequency of CCR5Δ32 and high frequency of CCR2b-64I alleles

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

Objective To investigate the allelic polymorphism of CCR5Δ32, CCR5m303, CCR2b 64I and SDF1 3′A in Tibetan population in Lasa area of China.Methods The genomic DNA samples from 330 Tibetan subjects' whole blood samples were purified by use of QIAgen Blood Kit and identified by PCR or PCR RFLP analyses.Results The mutation frequencies of CCR5Δ32 and CCR5m303 alleles were lower than 0.15%, and those of CCR2b 64I and SDF1 3′A alleles were 29.42% and 19.24% respectively in the study samples. The allelic polymorphisms of the four alleles of Tibetan population were similar to those of Chinese Han population. Genotype distribution of the four alleles was in accordance with Hardy Weinberg equilibrium. The above results suggest that Tibetan population may be relatively susceptive to HIV 1.Conclusion The Chinese Tibetan may have a lower frequency of CCR5Δ32 and a higher frequency of CCR2b 64I allele, compared with Caucasian.