中国汉族人HIV辅助受体CCR5编码区新SNP位点研究

目的：普查中国汉族人群HIV－1协同受体CCR5编码区的基因多态性位点，为中国的艾滋病防治提供依据。方法：CCR5编码区用2对引物进行PCR扩增，设计测序引物依次测序，样本数为45例，用DNAstar分析测序结果，寻找SNP位点。结果：在编码区共发现6个SNP位点，4个引起氨基酸改变：A184G、G503T、G668A、G999T；一个单碱基缺失，引起移码突变和提前终止。A184G、G503T、G999T，三个中国汉族人所特有的SNP位点为首次发现，等位基因频率分别为1％，39．5％和9．5％；其中G503T分布明显不符合Hardy-Weinberg平衡。G668A和894C缺失曾在中国和日本人群中发现过，但我们的结果与所报道的基因频率不完全一致。结论：中国汉族人CCR5编码区SNP位点有自己的特点，与高加索人和非洲人明显不同，与日本人也不完全一致。我们共找到5个引起氨基酸改变的突变或SNP位点，其中3个为首次发现，这些SNP对于HIV－1感染和艾滋病病程的影响值得进一步研究。

Research on the polymorphism property of HIV-1 coreceptor CCR5 coding region in Chinese Han nationality

Objective To investigate thepolymorphism property of HIV-1 coreceptor CCR5coding region in Chinese Han nationality for AIDSprevention and treatment in China. Method CCR5coding region was cloned by PCR amplification using2 pairs of primers, then sequenced by different se-quencing primers. Sequenced samples varied from 36to 48. The results of the same sequencing primerswere analyzed by DNAstar software to find and iden-tify SNP sites. Result Totally six SNPs and one cy-tosine deletion were found, resulting in four aminoacids replace and one frame shift. Among the fourmeaningful SNPs, A184G, G503T, G999T werefound first time and appeared only in Chinese Han na-tionality. The allelic frequencies of 184G, 503T, and999T were 1 %, 50% and 9. 5 % respectively, onlyG503T departed from Hardy-Weinberg equilibrium.G668A SNP and 894C deletion were once reported inthe Chinese and Japanese, but with different allelicfrequencies to our experiment. Conclusion Thepolymorphism of HIV-1 coreceptor CCR5 coding re-gion in Chinese Han nationality is special, not onlydifferent from Caucasian and African people, but alsodifferent from Japanese people to some extent. Total-ly five SNPs or deletion resulting in amino acidchanges were found, among them three were discov-ered first time. Their influences on HIV-1 infectionand AIDS progression should be paid enough empha-sis.