Zhang Yi, Zhuang Yun-long, Nie Xiang-min, Liu Yan, Song Yong-hong, Wang Guang-chen, Zhu Chuan-fu
HLA Laboratory, Blood Center of Shandong Province, Jinan, Shandong, People's Republic of China
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Apr;29(2):229-33. doi: 10.3760/cma.j.issn.1003-9406.2012.02.024.
To investigate allelic 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.
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.
Respectively 18, 33 and 13 alleles were observed at HLA-A, B and DRB1 loci. The most frequent alleles were HLA-A02(0.2935), HLA-B15(0.1485) and HLA-DRB115(0.1621). And the most common three loci haplotype was A30-B13-DRB107(0.0649). A33-B58, A66-DRB113 and B08-DRB103 showed the strongest linkage disequilibrium. Yantai and Weihai Han population has the shortest genetic distance with Jilin Han population (0.0034).
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.
研究烟台和威海汉族人群人类白细胞抗原（HLA）基因A、B和DRB1位点的等位基因及单倍型多态性，分析烟台、威海汉族人群与其他人群的遗传关系。
采用聚合酶链反应-序列特异性寡核苷酸探针（PCR-SSOP）技术对烟台和威海地区4062名无血缘关系的汉族个体进行HLA-A、B和DRB1位点基因分型。使用Arlequin 3.5软件通过最大似然估计法估计等位基因和单倍型频率。计算遗传距离，并使用Mega5.0软件构建系统发育树。
在HLA-A、B和DRB1位点分别观察到18个、33个和13个等位基因。最常见的等位基因是HLA-A02（0.2935）、HLA-B15（0.1485）和HLA-DRB115（0.1621）。最常见的三个位点单倍型是A30-B13-DRB107（0.0649）。A33-B58、A66-DRB113和B08-DRB103表现出最强的连锁不平衡。烟台和威海汉族人群与吉林汉族人群的遗传距离最短（0.0034）。
烟台和威海汉族人群的HLA-A、B和DRB1位点具有高度多态性，且该人群与吉林省汉族人群关系最为密切。
