我国部分省份(地区)汉族人群HLA-I类基因多态性地区差异分析  

Polymorphism of classical HLA-I genes in Chinese Han population from different areas

作　　者：袁方[1] 孙玉英[1] 梁飞[1] 刘楠[1] 金荔[1] 骆媛[1] 谭刘欣[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,北京100071

出　　处：《中国医药生物技术》2008年第5期343-349,共7页Chinese Medicinal Biotechnology

基　　金：国家重点基础研究发展计划(973计划)(2003CB515509);国家自然科学基金(3047051)

摘　　要：目的探讨我国部分省份(地区)汉族人群HLA-I类经典基因座位HLA-A、HLA-B、HLA-Cw位点的群体遗传学特点及其基因频率分布的地区差异。方法选取1014例无关汉族拟行造血干细胞移植治疗患者及其健康家系供者的血液样本,提取基因组DNA后,采用序列特异性引物聚合酶链式反应(PCR-SSP)分型技术进行HLA-A、HLA-B、HLA-Cw位点基因分型,分析不同地区汉族人群及不同种族间的基因频率分布特征。基于文献报道的我国不同地区汉族人群及不同种族的HLA-I类基因频率资料,计算种群间遗传距离(D),比较不同地区汉族人群及不同种族间遗传距离差异。结果Hard-Weinberg吻合度检验表明,本研究抽样群体适于进行遗传学统计分析。HLA-A位点共检测出14种基因型,最常见的是A*02(0.330)、A*11(0.240)、A*24(0.155)、A*33(0.075);HLA-B位点共检测出27种基因型,最常见的是B*13(0.134)、B*15(0.143)、B*40(0.133)、B*46(0.102);HLA-Cw位点共检测出13种基因型,最常见的是Cw*01(0.157)、Cw*03(0.247)、Cw*07(0.181)、Cw*08(0.106)。群体汉族与其他人种间HLA-A、HLA-B基因频率差异均有统计学意义(P<0.05);除兰州汉族人群仅同南方汉族、湖南、山东、江苏、台湾汉族人群间HLA-A、HLA-B基因频率差异有统计学意义(P<0.05)外,其余各地区汉族人群间HLA-A、HLA-B基因频率差异均有统计学意义(P<0.05)。各地区汉族人群间平均遗传距离D=0.164,辽宁和北方汉族人群间遗传距离(D=0.064)最小,江苏与湖南汉族人群间遗传距离(D=0.299)最大;不同地区汉族人群间遗传距离普遍小于种族间遗传距离。结论我国不同地区汉族人群HLA-I类基因频率分布存在显著差异,但其差异要明显小于世界不同人种间的分布差异。我国汉族人群所特有的HLA-I类基因频率分布格局资料对区域性疾病的个性化治疗、遗传易感性及疾病防治等研究具有很好的理论及应用价值。Objective To investigate the polymorphism of HLA-A, HLA-B, HLA-Cw genes frequencies in Chinese Han population, and their genetic diversity in Chinese Han populations from different regions. Methods HLA-A, HLA-B and HLA-Cw loci were genotyped in 1014 unrelated China Han people using low resolution polymerase chain reaction with sequence-specific primers （PCR-SSP） typing method. Gene frequencies of other ethnic groups and Chinese Han populations from different areas were collected from published resources, and the differences among different areas and races were analyzed. In addition, the genetic distances （D） calculated with population genetics methods were employed to evaluate the genetic relationship among different populations. Results HLA-A, HLA-B, HLA-Cw genotypes were in Hard-Weinberg equilibrium. Among the 14 detected HLA-A genes, A^＊02 （0.330） was the most popular gene distributing in Chinese Han population, followed by A^＊11 （0.240）, A^＊24 （0.155）, and A^＊33 （0.075）. Of 27 identified HLA-B genes, B^＊13 （0.134）, B^＊15 （0.143）, B^＊40 （0.133）, and B^＊46 （0.102） were the predominant genotypes. As to HLA-Cw locus, a total of 13 HLA-Cw genotypes were observed, among which Cw^＊01 （0.157）, Cw^＊03 （0.247）, Cw^＊07 （0.181）, and Cw^＊08 （0.106） were the most common types. There were significant differences （P 〈 0.05） in HLA-A and HLA-B genes frequencies between Chinese Han and other ethnic populations. Similar results were also found within Han populations from different regions （P 〈 0.05）, except for the Han populations from Lanzhou, in whom the HLA-A and HLA-B genes frequencies were only different from those in the Hans from South China, Hunan, Shandong, Jiangsu and Taiwan （P 〈 0.05）, but not those from other areas. The mean D in Han populations was 0.164, ranged from 0.064 （Han populations from Liaoning and North China） to 0.294 （Han populations from Jiangsu and Hunan）. The D among Han populations from differen

关 键 词：基因 MHCI类 多态性 单核苷酸 变异(遗传学) 基因频率 

分 类 号：R394[医药卫生—医学遗传学]