我国云南部分HIV-1感染者黏合素蛋白基因单核苷酸多态性研究  

Genetic polymorphism of tetherin genes in HIV-1 infected people in Yunnan,China

作　　者：隋洪帅[1,2] 韩婧婉[1] 杨绍敏 贾磊[1] 刘永健[1] 李敬云[1] 李林[1] 

机构地区：[1]军事医学科学院微生物流行病研究所,全军艾滋病检测中心,北京100071 [2]北京军区北戴河疗养院检验科,河北秦皇岛066100 [3]云南省传染病医院艾滋病关爱中心,昆明65030

出　　处：《军事医学》2013年第7期502-505,共4页Military Medical Sciences

基　　金：国家自然科学基金资助项目(81072348)

摘　　要：目的分析我国云南地区部分HIV-1感染者体内黏合素蛋白基因单核苷酸多态性,为了解我国人群HIV感染与病程进展相关的遗传因素提供基础数据。方法在云南省收集HIV-1感染者静脉血,分离外周血淋巴细胞,提取基因组DNA,PCR扩增目的基因后行Sanger测序,BioEdit软件分析序列以确定多态性位点的存在情况,Haploview v4.2软件确定多态性位点连锁情况。结果获得了来自18个民族的HIV-1感染者体内黏合素蛋白基因序列95条,检出多态性位点19个,频率>5%的位点13个,其中外显子区域6个、内含子区域4个、非翻译区3个;连锁不平衡分析显示符合Hardy-Weinberg平衡分布,g.2170、g.2305、g.2504和g.2770间任意两位点呈高度连锁,g.2305、g.2504、g.2736和g.2770间任意两位点呈高度连锁(r2≥0.8)。统计学分析显示,上述多态性位点与民族、传播途径、CD4细胞计数及病毒载量间无显著相关性。结论首次获得中国人群黏合素蛋白基因多态性数据,为进一步分析其与HIV-1感染及进程的关系奠定了基础。Objective To investigate the genetic polymorphism of human tetherin genes in HIV-1 infected people in Yunnan Province of China. Methods Tetherin genes were amplified with genomic DNA extracted from PBMCs as tem- plates, followed by sequencing with Sanger method. The sequences were assembled, aligned and their polymorphism sites were analyzed with BioEdit software. The linkage of polymorphism sites were analyzed with Haploview v4.2 software. Results A total of ninety-five tetherin sequences from I-IIV-1 infected people of eighteen different ethnic groups were ob- tained. Nineteen SNPs were identified with thirteen sites showing a frequency of more than 5%. Among the thirteen sites, six sites were located in exons,four sites in introns and three sites in the UTR regions. Strong linkage among g. 2170, g. 2305, g. 2504 and g. 2770 ; or g. 2305, g. 2504, g. 2736 and g. 2770 ; or g. 2504, g. 2736 and g. 2770 ; and or g. 2736 and g. 2770 was observed with linkage disequilibrium analysis. No significant correlation between these SNPs and ethics, gender,transmission pathway, CD4 cell count or viral load was demonstrated with statistic analysis. Conclusion The poly- morphism of tetherin genes is first investigated in HIV-1 infected Chinese. The results will throw light on the relationship be- tween tetherin genetic polymorphism and HIV-1 infection or disease procession of HIV-1 infected people.

关 键 词：HIV-1 黏合素蛋白 单核苷酸多态性 

分 类 号：R512.91[医药卫生—内科学]