中国汉族人群MN血型相关基因gypa分子多态性的研究  

Molecular Polymorphism of gypa Gene in Association with MN Human Blood Group in Chinese Han Population

作　　者：梁延连[1] 张艳艳[1] 庄乃保[1] 

机构地区：[1]深圳市血液中心,广东深圳518035

出　　处：《中国实验血液学杂志》2011年第1期235-238,共4页Journal of Experimental Hematology

基　　金：深圳市科技计划项目(编号200903141)

摘　　要：本研究探讨中国汉族人群MN血型相关基因gypa的多态性。随机选取中国汉族人群中无血缘关系的无偿献血者202人份,以血清学方法鉴定样本的MN血型表现型。根据GenBank的NG-007470基因参照序列设计gypa第2外显子引物,对202人份的DNA进行PCR扩增,同时对扩增产物进行直接测序。结果表明:所有样本的gypa第2外显子第1、56位碱基均发生了变异,其中MN表现型杂合子主要以1A>C、22T/C、34A/G、35T/G、56T>C的形式存在;MM表现型纯合子主要以1A>C、22C、34G、35T、56T>C的形式存在;NN表现型纯合子主要以1A>C、22T、34A、35G、56T>C的形式存在。结论:中国汉族人群MN血型相关基因的多态性主要由gypa第2外显子的第1、22、34、35、56共5个位点的多态性所决定,其中第1、56位为非功能性SNP位点。This study was purposed to investigate the molecular polymorphism of gypa gene in association with MN human blood group in Chinese Han population.The MN phenotypes of 202 random samples from unrelated Chinese Han volunteers were identified by serology techniques.The primer for gypa gene exon 2 were designed and synthesized according to reference sequences of NG-007470 gene from GenBank,the DNA of 202 samples was amplified by PCR,at the same time,the amplified products were analyzed by direct DNA sequencing.The results showed that all samples had 2 base substitutions at 1st and 56th nt of gypa exon 2,among them the MN phenotype heterozygote exited mainly in the form of 1AC,22T/C,34A/G,35T/G,56TC;the MM phenotype homozygote exited mainly in the form of 1AC,22C,34G,35T,56TC;the NN phenotype homozygote exited mainly in the form of 1AC,22T,34A,35G,56TC.It is concluded that the polymorphism of gypa gene in associated with MN blood group in Chinese Han population is decided by 5 nucleotide sites of 1,22,34,35 and 56.The bases of 1 and 56 are non-functional gypa single nucleotide polymorphism.

关 键 词：MN血型 gypa基因 基因测序 遗传多态性 

分 类 号：R457.11[医药卫生—治疗学]