新疆维吾尔族人类白细胞抗原G 3'非翻译区基因多态性调查  

Polymorphism in 3' untranslated regions of human leukocyte antigen G gene in Uygur,Xinjiang

作　　者：胡国龙[1] 邵雷[2] 林红[2] 桂霞[1] 

机构地区：[1]新疆医科大学附属肿瘤医院输血科,新疆乌鲁木齐830011 [2]江苏省血液中心输血研究室,江苏南京210042

出　　处：《南京医科大学学报（自然科学版）》2017年第10期1261-1264,共4页Journal of Nanjing Medical University(Natural Sciences)

基　　金：江苏省"六大人才高峰"项目(2014-WSN-002)

摘　　要：目的:了解新疆维吾尔族人群人类白细胞抗原G(HLA-G)3′非翻译区(3′UTR)基因多态性。方法:提取100例维吾尔族基因组DNA,采用PCR方法扩增3′UTR,直接进行测序,分析基因多态性和单倍型分布情况。结果:100例维吾尔族人基因组DNA标本成功测序98人份,在HLA-G 3′UTR区检测到10个基因多态性,包括14bp Del/Ins、+3003C/T、+3010C/G、+3027A/C、+3035C/T、+3092T/G、3121T/C、+3142C/G、+3187A/G、+3196C/G。这些基因位点之间强连锁,共有20个单倍型,其中单倍型2最多,占24.9%。结论:新疆维吾尔族HLA-G 3′UTR的基因多态性和基因连锁情况具有独特性,为进一步研究HLA-G在遗传、进化、免疫功能和相关疾病中的作用机制提供了研究依据。Objective：To investigate gene polymorphsim of human leukocyte antigen G （HLA-G） 3’ untranslated regions （3’-UTR） in Uygur,Xinjiang. Methods：Genomic DNA was extracted from 100 blood samples of Uygur population. Amplification of HLA-G 3’-UTR was performed by PCR. The productions were directly sequenced to analyze the frequency of genotypes and haplotypes.Results：There were 98 samples sequenced successfully.Ten single nucleic polymorphisms were found in HLA-G 3＇UTR in Uygur populations consisting of 14bpDel/Ins,＋3003C/T,＋3010C/G,＋3027A/C,＋3035C/T,＋3092T/G,3121T/C,＋3142C/G,＋3187A/G and ＋3196C/G. Strong linkage disequilibrium existed among these SNPs. It showed a higher HLA-G 3’-UTR haplotype diversity including 20 haplotypes and UTR-2 was the most one （24.9%）. Conclusion：Polymorphisms and haplotypes of HLA-G 3’-UTR were distinct in Uygur populations. The data provide fundamental and critical information to explore mechanism of HLA-G in the role of genetics,evolution,immunity function and related diseases.

关 键 词：人类白细胞抗原 HLA-G 基因多态性 维吾尔族 

分 类 号：R392[医药卫生—免疫学]