我国汉族人群HLAⅠ类经典基因单倍型及连锁分析  

Haplotype and Linkage Analysis of HLA-I Classical Genes in Chinese Han Population

作　　者：袁方[1] 孙玉英[1] 骆媛[1] 梁飞[1] 刘楠[1] 金荔[1] 刘金锋[1] 刘曙光[1] 奚永志[1] 

机构地区：[1]军事医学科学院附属医院免疫学研究室及国家生物医学分析中心免疫实验室,北京100071

出　　处：《中国实验血液学杂志》2007年第5期1084-1089,共6页Journal of Experimental Hematology

基　　金：国家"973"重大基础研究基金(编号2003CB515509);国家自然科学基金(编号3047051)资助

摘　　要：本研究旨在探讨我国汉族人群HLAⅠ类经典基因座位HLA-A、HLA-B、HLA-Cw位点的基因频率,单倍型频率及连锁特征。采用序列特异性引物(SSP)PCR低分辨基因分型技术对1014例随机选择的无关个体的经典HLAⅠ类位点进行基因分型,并对其相关遗传学参数进行统计学分析。结果发现汉族人群中较为常见的HLA-Ⅰ类基因是A*02(0.33)、A*11(0.24)、B*15(0.14)、B*13(0.13)、Cw*03(0.25)、Cw*07(0.18);较为常见的单倍型是A*02-B*46(0.071)、A*11-B*15(0.051)、A*02-Cw*01(0.084)、A*11-Cw*03(0.079)、B*46-Cw*01(0.095)和B*13-Cw*03(0.071)等,其中A*02-B*46、A*30-B*13、A*30-Cw*06、A*02-Cw*01、B*46-Cw*01和B*58-Cw*03等单倍型呈现出显著的连锁不平衡;而A*02-B*15、A*02-B*40、A*24-Cw*03、A*02-Cw*03、A*31-Cw*03等连锁不平衡性相对较低,其中A*24-Cw*03在重组事件中较常出现。此外,A*02-B*46-Cw*01(0.075)、A*30-B*13-Cw*06(0.046)、A*11-B*13-Cw*03(0.045)、A*33-B*58-Cw*03(0.044)、A*11-B*15-Cw*08(0.027)、A*02-B*38-Cw*07(0.023)、A*11-B*40-Cw*07(0.022)等为常见扩展单倍型。结论:本研究较系统地分析了我国汉族人群的HLA遗传学分布特点,为群体进化、临床移植及疾病相关研究等提供了有价值的遗传学资料。The aim of this study was to investigate the parameters of gene frequencies, haplotype frequencies and linkage disequilibrium of HLA-A,-B,-Cw in HLA classical Ⅰ loci for Chinese Han population. HLA-A, HLA-B and HLA-Cw loci were genotyped in 1014 unrelated China people using low resolution PCR-SSP typing method, and their genetic parameters were analyzed by statistic methods. The results indicated that among all the detected HLA-Ⅰgenes, A ＊ 02（0.33）, A＊11（0.24）, B＊15（0.14）, B＊13（0.13）, Cw＊03（0.25） andCw＊07 （0.18） were the popular gene groups distributing in Chinese Han population, and A ＊ 02-B ＊ 46 （ 0.071 ）, A ＊ 11 -B ＊ 15 （ 0.051 ）, A ＊ 02-Cw ＊ 01 （0.084） , A ＊ 11-Cw ＊ 03 （0.079） , B ＊ 46-Cw ＊ 01 （0.095） and B ＊ 13-Cw ＊ 03 （0.071） were the predominant haplotypes in Han population. Additionally, A ＊ 02-B ＊ 46, A ＊ 30-B ＊ 13, A ＊ 30-Cw ＊ 06, A ＊ 02-Cw ＊ 01, B ＊ 46- Cw ＊ 01 and B ＊ 58-Cw ＊ 03 were statistically significant with strong linkage disequilibrium. While A ＊ 02-B ＊ 15, A ＊ 02-B ＊ 40, A ＊ 24-Cw ＊ 03, A ＊ 02-Cw ＊ 03 and A ＊ 31-Cw ＊ 03 were in low linkage disequilibrium, among them A ＊ 24-Cw ＊ 03 appeared frequently in HLA recombination events. In addition,A ＊ 02-B ＊ 46-Cw ＊ 01 （0.075）, A ＊ 30-B ＊ 13-Cw＊06 （0.046）, A＊11-B＊ 13-Cw＊03（0.045）, A＊33-B＊58-Cw＊03（0.044）, A＊ 11-B＊ 15-Cw＊08 （0.027）, A ＊ 02-B ＊ 38- Cw＊ 07（0.023） and A ＊ 11-B ＊ 40-Cw＊ 07（0.022） were the main extended haplotypes in Han population. In conclusions, this study investigated systematically the genetic polymorphism features of Chinese Han population, which may provide useful genetic parameters for researches in colonial evolution, clinical transplantation and disease susceptibility.

关 键 词：HIA Ⅰ类基因 遗传多态性 基因频率 单倍型频率 连锁不平衡 

分 类 号：R457.11[医药卫生—治疗学] Q755[医药卫生—临床医学]