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中国汉族人HIV辅助受体CCR5编码区新SNP位点研究

Research on the polymorphism property of HIV-l coreceptor CCR5 coding region in Chinese Han nationality
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摘要 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 polymorphism property of HIV-1 coreceptor CCR5 coding region in Chinese Han nationality for AIDS prevention and treatment in China. Method CCR5 coding region was cloned by PCR amplification using 2 pairs of primers, then sequenced by different se- quencing primers. Sequenced samples varied from 36 to 48. The results of the same sequencing primers were 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 amino acids replace and one frame shift. Among the four meaningful SNPs, A184G, G503T, G999T were found first time and appeared only in Chinese Han na- tionality. The allelic frequencies of 184G, 503T, and 999T were 1 %, 50% and 9. 5 % respectively, only G503T departed from Hardy-Weinberg equilibrium. G668A SNP and 894C deletion were once reported in the Chinese and Japanese, but with different allelic frequencies to our experiment. Conclusion The polymorphism of HIV-1 coreceptor CCR5 coding re- gion in Chinese Han nationality is special, not only different from Caucasian and African people, but also different from Japanese people to some extent. Total- ly five SNPs or deletion resulting in amino acid changes were found, among them three were discov- ered first time. Their influences on HIV-1 infection and AIDS progression should be paid enough empha- sis.
出处 《传染病信息》 2002年第3期126-127,共2页 Infectious Disease Information
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