江苏地区汉族人群HLA-G 3'非翻译区基因多态性和单体型分析  

Polymorphisms and haplotypes of human leukocyte antigen G,(HLA-G) 3'-UTR in Jiangsu Han population

作　　者：邵雷[1] 林红[1] 

机构地区：[1]江苏省血液中心,江苏南京210042

出　　处：《中国输血杂志》2017年第3期267-270,共4页Chinese Journal of Blood Transfusion

基　　金：江苏省2014"六大人才高峰"资助项目(2014-WSN-002)

摘　　要：目的调查江苏地区合格献血者HLA-G 3'非编码区(3'-UTR)基因多态性和单体型特征。方法提取江苏地区合格献血者全血基因组DNA,PCR方法扩增HLA-G 3'UTR,利用基因测序对多态性位点进行基因分型,直接计算基因频率和基因型频率,利用SHEsis软件分析单体型。结果江苏地区88名献血者HLA-G 3'UTR共有8个多态性位点:+2960 14 bp插入/缺失,+3003C/T,+3010C/G,+3027A/C,+3035C/T,+3142C/G,+3187A/G,+3196C/G,其基因频率及基因型频率均符合Hardy-weinberg平衡定律(P>0.05);各位点紧密连锁(D'>0.7),SHEsis软件分析求得频率>0.03的单体型有6种,其中单体型UTR-3(DTCCCG AC,频率=0.256)最为常见。结论本研究分析了江苏地区合格献血者HLA-G 3'UTR的8个多态性位点、连锁不平衡和单体型频率的特征,对于研究本地区HLA-G的基因多态性以及与相关疾病的关系提供了重要依据。Objective To investigate the genetic polymorphisms of human leukocyte antigen-G 3＆#39;untranslated region （3＆#39;-UTR） and analyze the characteristics of genotypes and haplotypes in eligible blood donors in Jiangsu.Methods Genomic DNA was extracted from 88 eligible blood donors.HLA-G 3＇UTR gene was amplified by PCR and sequenced.The polymorphism sites were determined by gene sequencing.Gene and genotype frequencies were calculated directly and the characteristics of haplotypes were analyzed by SHEsis software.Results There were 8 polymorphism sites of HLA-G 3＆#39;UTR in 88 donors In Jiangsu：＋ 2 960 14 bp Ins/Del,＋ 3 003 C/T,＋ 3 010 C/G,＋ 3 027 A/C,＋ 3 035 C/T,＋ 3 142 C/G,＋ 3 187 A/G and ＋ 3 196 C/G.All the alleles and genotypes frequencies were in accord with Hardy-Weinberg equilibrium （P〉0.05）.Each locus linked closely （D＇〉0.7）.A total of 6 haplotypes with a fiequency of over 0.03 were found.The most common haplotype was UTR-3 （DTCCCGAC,f=0.256）.Conclusion This study analyzes the gene polymorphisms,linkage disequilibrium and the characteristics of haplotypes in Jiangsu blood donors.It provides an important basis for studying gene polymorphisms of HLA-G and the relationship among related diseases in this region.

关 键 词：合格献血者 人类白细胞抗原-G 3’非编码区 多态性 基因型 单体型 

分 类 号：R457.11[医药卫生—治疗学]