深圳地区汉族献血人群MICA等位基因多态性及其与HLA-B基因的连锁不平衡分析  

Polymorphisms of MICA gene and their linkage disequilibrium with HLA-B among ethnic Han Chinese from Shenzhen

作　　者：王宋兴[1] 徐筠娉[1] 何柳媚[1] 洪文旭[1] 高素青[1] Wang Songxing , Xu Yunping , He Liumei , Hong Wenxu , Gao Suqing(Shenzhen Institute of Transfusion Medicine, Shenzhen Blood Center, Shenzhen , Guangdong 518035, Chin)

机构地区：[1]广东省深圳市血液中心输血医学研究所,518035

出　　处：《中华医学遗传学杂志》2018年第5期747-752,共6页Chinese Journal of Medical Genetics

基　　金：深圳市卫生计生系统科研项目（201606046）

摘　　要：目的研究主要组织相容性复合体Ⅰ类链相关基因A位点（major histocompatibility complex class Ⅰ chain-related geneA，MICA）在深圳地区汉族献血人群中的分布特点及其与人类白细胞抗原B位点（human leukocyte antigen locusB，HLA-B）基因的连锁不平衡关系。方法采用基于聚合酶链反应一碱基序列直接测序（PCR-sequence based typing，PCR-SBT）方法对143名随机深圳地区汉族献血者进行MICA和HLA-B基因高分辨分型，并采用Pypop软件分析等位基因频率、单倍型频率和连锁不平衡参数。结果143名献血者标本中共检出了13个MICA和35个HLA-B等位基因，其中MICA＊008：01频率最高（76／286）MICA＊008：01-HLA-B＊40：01和MICA＊010-HLA-B＊46：01是最常见的单倍型。结论获得了深圳地区汉族献血人群MICA和HLA-B基因的等位基因和单倍型多态性及连锁不平衡分析数据，列出了部分MICA和HLA-B等位基因及单倍型频率，为MICA和HLA-B基因的相关研究和应用提供了参考数据。Objective To study the distribution of MICA alleles among ethnic Han Chinese blood donors from Shenzhen and their linkage disequilibrium with HLA-B gene. Methods For 143 randomly selected blood donors, the MICA and HLA-B alleles were determined with a PCR-sequence based typing （SBT） method. Allelic frequency, haplotypic diversity and linkage disequilibrium were analyzed with a Pypop software. Results Thirteen MICA and 35 HLA-B alleles were identified among the 143 blood donors, among which MICA ＊ 008：01 had the highest frequency （76/286）, whilst MICA ＊008：01-HLA-B＊40： 01 and MICA ＊ 010-HLA-B ＊ 46：01 were the most common haplotypes. No novel allele was identified. Conclusion The allele frequencies, haplotype diversities and linkage disequilibrium parameters under a high resolution can facilitate further studies and applications of the MICA and HLA-B genes.

关 键 词：主要组织相容复合体Ⅰ类相关基因A位点 人类白细胞抗原B位点 连锁不平衡 多态性 单倍型 

分 类 号：R440[医药卫生—诊断学]