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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-Wein-berg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。
Objective To investigate the polymorphisms of CCR5 coding region of HIV-1 co-receptor in Chinese Han population and to provide basis for AIDS prevention and control in China. Methods The CCR5 coding region was amplified by PCR using two pairs of primers. The sequencing primers were designed and sequenced in sequence. The number of samples was 45, and the sequence was sequenced by DNAstar to find the SNP loci. Results Six SNP sites were found in the coding region. Four of them caused amino acid changes: A184G, G503T, G668A and G999T; a single base deletion caused a frameshift mutation and premature termination. The SNPs of A184G, G503T and G999T were found for the first time in China. The frequency of alleles was 1%, 39.5% and 9.5%, respectively. The distribution of G503T did not fit the Hardy-Weinberg equilibrium. The G668A and 894C deletions have been found in China and Japan but our results do not exactly match the published gene frequency. Conclusion The SNP loci of Chinese CCR5 coding region have their own characteristics, which are obviously different from Caucasians and Africans and not exactly the same with Japanese. We found a total of five mutations or SNPs that cause amino acid changes, of which three were found for the first time. The impact of these SNPs on the HIV-1 infection and the course of AIDS deserves further study.