西安地区献血人群MNS血型基因多态性研究  

Analysis of genetic polymorphism of blood donors in Xi'an based on the MNS human blood group system

作　　者：彭进[1,2] 梁延连[3] 徐华[4] 冯秋菊 钟楠楠 殷彦 王军阳[1] 

机构地区：[1]西安交通大学医学部基础医学院病原生物学与免疫学系,陕西西安710061 [2]西安市卫生学校 [3]深圳市血液中心 [4]陕西省血液中心

出　　处：《中国输血杂志》2017年第6期590-592,共3页Chinese Journal of Blood Transfusion

基　　金：西安市卫生和计划生育委员会资助项目(J2014051)

摘　　要：目的了解西安地区人群MNS血型基因的多态性。方法随机选取陕西西安地区献血人群200(人)份血样,以血型血清学鉴定其MN和Ss表现型;同时提取全血中的DNA,对血型糖蛋白相关基因GYPA的内含子(intron)-2、3及外显子(exon)-2与GYPB的exon-3(B4)序列扩增后测序;分析本组人群MNS等位基因的多态性并与不同地区人群的M基因各型的构成比作比较。结果本组人群的MN、Ss血型血清学定型与基因测序分型结果完全一致,其中M、N、S、s基因频率分别为0.467、0.533、0.053和0.947,MG、MT基因频率分别为0.415和0.052;本组人群M基因各型的构成比与北京和深圳人群不同;GYPA intron-2的第59与60位碱基处插入T,发生率为20.5%(41/200)。结论西安地区献血人群MNS血型基因具有多态性,对这种多态性的了解有助于本地区临床科学、合理输血以及开展人类群体遗传学特征及分子生物学的研究。Objective To investigate the polymorphism of blood donors in Xi＇ an based on the MNS antigen system.Methods 200 blood samples were randomly selected from blood donors in the Xi＇an area,the phenotype of MN and Ss were identified by blood group serology methods.DNA samples were extracted from whole blood.The partial sequences of exon-3 in GYPB and intron-2,intron-3 and exon-2 in GYPA were amplified and sequenced to analyze the polymorphism of MNS alleles.Results The results of MN and Ss blood group serological typing in the Xi＇ an region were identical to the results of gene sequencing.The frequencies of M,N,S and s genes were 0.467,0.533,0.053 and 0.947,respectively while the MG and MT allele frequencies were 0.415 and 0.052.Statistic analysis showed that the proportion of M gene in donors in the region was different from the proportion in Beijing and Shenzhen.Mutation occurs in the intron-2 sequence in GYPA where a T base was insterted between site 59 and 60 with a mutation rate of 20.5%（41/200）.Conclusion This study of MNS blood group genetic polymorphism of the donors in Xi＇ an provides valuable data may promote local clinical blood transfusion and support the research of human population genetic analysis.

关 键 词：MNS血型 献血者 西安 GYPA GYPB 基因多态性 

分 类 号：R457.1[医药卫生—治疗学] Q754[医药卫生—临床医学]