山东省烟台和威海地区汉族HLA-A、B和DRB1等位基因多态性及遗传距离分析  

Analysis of HLA-A, B, and DRB1 polymorphism and genetic distance in Han population living in Yantai and Weihai regions of Shandong province

作　　者：张毅[1] 庄云龙[1] 聂向民[1] 刘艳[1] 宋永红[1] 王光臣[2] 朱传福[1] 

机构地区：[1]山东省血液中心HLA研究室,济南250014 [2]山东大学控制科学与工程学院

出　　处：《中华医学遗传学杂志》2012年第2期229-233,共5页Chinese Journal of Medical Genetics

摘　　要：目的分析山东省烟台和威海地区汉族人群人类白细胞抗原（human leukocyte antigen，HLA）-A、B、DRB1等位基因的多态性分布特征，并探讨该人群与其他人群的亲缘关系。方法应用聚合酶链反应一序列特异性寡核苷酸探针方法（polymerasechainreaction—sequencespecificolignucleotideprobe，PCR-SSOP）对山东省烟台和威海地区4062名无亲缘关系的汉族健康个体进行HLA—A、B、DRB1基因分型。采用Arlequin3．5软件计算HLA等位基因频率、单倍型频率和连锁不平衡参数，按内氏公式计算出不同人群之间的遗传距离，并利用Mega5．0软件构建系统发生树。结果该人群HLA—A、B、DRB1等位基因分布均符合Hardy-Weinberg平衡（P〉0．1）。3个基因座分别检出18、33和13个等位基因，其中等位基因频率分布最高的分别是A＊02（0．2935）、B＊15（0．1485）和DRB1＊15（0．1621）；最常见的单倍型为A＊30—B＊13-DRB1＊07（0．0649），A＊33-B＊58、A＊66～DRB1＊13、B＊08-DRB1＊03呈现最强的连锁不平衡；山东省烟台和威海汉族人群与吉林省汉族人群遗传距离最小，为0．0034。结论山东省烟台和威海地区汉族人群HLA-A、B、DRB1等位基因和单倍型具有较高的遗传多态性，该人群与吉林汉族人群亲缘关系最近。Objective To investigate altelic and haplotypic polymorphisms of human leukocyte antigen （HLA） genes at A, B and DRB1 loci in Yantai and Weihai Han population and analyze the genetic relationship between Yantai, Weihai Han population and other populations. Methods A total of 4062 unrelated Han ethnic individual from Yantai and Weihai regions were genotyped by polymerase chain reaction-sequence specific olignucleotide probe （PCR-SSOP） for HLA-A, B and DRB1 loci. Allelic and haplotypic frequencies were estimated by maximum likelihood estimation method using Arlequin 3. 5 software. Genetic distances were computed, and phylogenetic tree was constructed using Mega5.0 software. Results Respectively 18,33 and 13 alleles were observed at HLA-A,B and DRB1 loci. The most frequent alleles were HLA-A＊ 02（0. 2935）, HLA-B ＊ 15（0. 1485） and HLA-DRB1 ＊ 15（0. 1621）. And the most common three loci haplotype was A ＊ 30-B ＊ 13-DRB1 ＊ 07（0. 0649）. A ＊ 33-B ＊ 58,A ＊ 66-DRB1 ＊ 13 and B＊ 08-DRB1 ＊ 03 showed the strongest linkage disequilibrium. Yantai and Weihai Hart population has the shortest genetic distance with Jilin Han population （0. 0034）. Conclusion The HLA-A,B and DRB1 loci are highly polymorphic in Han population from Yantai and Weihai, and this population has closest relationship with Han population from Jilin province.

关 键 词：人类白细胞抗原 多态性 汉族 遗传距离 

分 类 号：R394[医药卫生—医学遗传学]