中国南方汉族人群主要组织相容性复合物Ⅰ类链相关基因A基因多态性研究  

Analysis on polymorphism of major histocompatibility complex class Ⅰ chain related gene A genes in Han nationality population from southern China

作　　者：何柳媚[1] 李玉珠[2] 高素青[1] 

机构地区：[1]广东省深圳市血液中心,518000 [2]广东省深圳市第二人民医院,518035

出　　处：《国际输血及血液学杂志》2015年第6期496-500,共5页International Journal of Blood Transfusion and Hematology

基　　金：深圳市科技计划项目（200902119）

摘　　要：目的 探讨中国南方汉族人群中主要组织相容性复合物Ⅰ类链相关基因（MIC）A等位基因多态性及分布特征.方法 选择2014年7月1日至12月31日于深圳市血液中心无偿献血的250例献血者为研究对象.采用聚合酶链反应-直接测序法（PCR-SBT）对献血者MICA基因第2～4外显子进行序列测定,并采用统计学方法比较中国南方汉族人群与世界不同地区人群等位基因频率及遗传多态性结果.本研究遵循的程序符合深圳市血液中心人体试验委员会制定的伦理学标准,得到该委员批准,征得受试对象知情同意,并于采血前与之签订相关伦理学文件.结果 本组献血者中检出MICA等位基因为21个,基因型为45种.MICA基因多态性以MICA＊ 00801等位基因频率最高,占27.8％,其次为MICA＊ 010（19.8％）,MICA＊ 00201（16.2％）,MICA＊ 019（11.0％）.MICA基因型以MICA＊ 00801-MICA＊ 010频率最高,占10.0％.本组献血者基因分布与韩国、泰国、奥地利和摩洛哥人群比较结果显示,MICA＊ 045等位基因只存在于中国南方汉族人群中.结论 中国南方汉族人群的MICA等位基因分布具有高度的遗传多态性,且有其自身分布特点.本研究获得的中国南方汉族人群较完整的MICA等位基因分布数据,将为人类学、MICA疾病相关性等研究提供遗传学参考数据.Objective To explore genetic polymorphism and distribution characteristics of major histocompatibility complex class Ⅰ chain related gene （MIC） A gene in Han nationality population from southern China.Methods From July 1st,2014 to December 31st,a total of 250 voluntary blood donors in Shenzhen Blood Center were included in this study.The donors＇ MICA gene exons 2-4 were sequenced by polymerase chain reaction-direct sequencing （PCR-SBT）,and allele frequencies and genetic polymorphism results of population in different areas were compared with statistical methods.The study protocol was approved by the Ethical Review Board of Investigation in Human Being of Shenzhen Blood Center.Informed consent was obtained from all donors before blood collection.Results 21 MICA alleles and 45 MICA genotypes were detected in these donors.MICA ＊ 00801 was dominant in MICA allele,accounted for 27.8%,and the others were MICA＊010 （19.8%）,MICA＊00201（16.2%）,and MICA＊019 （11%）,respectively.MICA ＊ 00801-MICA ＊ 010 （10%） was dominant in MICA genotype.Compare with results of MICA gene distribution in South Korea,Thailand,Austria and Morocco,MICA ＊ 045 allele was only detected in Han nationality population from southern China.Conclusions There are genetic polymorphism and distribution characteristics of MICA alleles in Han nationality population from southern China compared with people in different areas of the world.The MICA distribution data in this study would be helpful for research of anthropology and MICA related disease.

关 键 词：多态性 单核苷酸 主要组织相容性复合物 基因 MHC Ⅰ类 中国 南方 汉族 

分 类 号：R394[医药卫生—医学遗传学]