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.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2012年第2期229-233,共5页
Chinese Journal of Medical Genetics
关键词
人类白细胞抗原
多态性
汉族
遗传距离
Human leukocyte antigen
Polymorphism Han population Genetic distance
