中国汉族人HIV-1协同受体CXCR4基因编码区新的突变位点研究  

Polymorphism of CXCR4 coding region of human immunodeficiency virus-1 in Chinese Han people

作　　者：刘明旭[1] 王福生[1] 洪卫国[1] 王波[1] 金磊雷 周云[1] 侯静[1] 

机构地区：[1]解放军第三○二医院生物工程研究室,北京100039

出　　处：《中华实验和临床病毒学杂志》2003年第2期162-164,共3页Chinese Journal of Experimental and Clinical Virology

基　　金：国家自然科学基金 ( 3 9770 683 0 )

摘　　要：目的　对中国汉族人群HIV 1协同受体CXCR4编码区的基因多态性进行研究 ,为中国的获得性免疫缺陷综合征 (AIDS)防治提供依据。方法　CXCR4 (cDNA编号AF14 72 0 4 )编码区用 2对引物进行PCR扩增 ,然后分别测序 ,测序样本数为 4 8例。用DNAstar分析测序结果 ,寻找SNP位点。结果　在编码区发现了 7个SNP位点 ,其中 3个同义突变 (12 9位C→T、4 2 6位C→T ,96 8C→T) ,3个有义突变 (38位C→T、90位A→T、712位A→C) ,1个终止突变 (10 6位C→T使谷氨酸密码子变成终止密码子 )。其中 38位C→T、90位A→T、712位A→C、10 6位C→T ,基因突变频率为 4 2 %、4 2 %、9 4 %和3 1%。结论　在CXCR4编码区找到的 7个SNP位点中 ,4个引起氨基酸改变 ,1个已有报道 ,对HIV 1感染和AIDS病程的影响值得研究。Objective To study the polymorphism of human immunodeficiency virus (HIV) 1 coreceptor CXCR4 in Chinese Han ethnic group for AIDS prevention and treatment Method Totally 48 individuals were enrolled into the study CXCR4 (cDNA No AF147204) was cloned by PCR amplification using 2 pairs of primers,then sequenced using sequencing primers The results of the same sequencing primers were analyzed by DNAstar software to find and identify single nucleotide polymorphism (SNP) sites Results Totally 7 SNPs were found in the coding region of CXCR4, among them 3 were synonymous mutation (C→T at loci 129, 426 and 968), 3 were missense mutation (C→T at locus 38, A→T at locus 90, and A→C at locus 712) and 1 was stop mutation (C→T at 106, which converted the codon for glutamic acid into stop codon) Conclusion The polymorphism of CXCR4 coding region in Chinese Han is probably different from that of the other ethnic groups Six of the 7 SNPs were discovered for the first time Their influences on AIDS progression are worthy of studying

关 键 词：中国 汉族 HIV-1 受体 CXCR4 编码区 突变位点 获得性免疫缺陷综合征 基因突变 

分 类 号：R346[医药卫生—基础医学]