中国南方汉族人群HLA-A、B、DRB1基因的序列分析和单体型分布

目的分析中国南方汉族人群HLA-A、-B、-DRB1基因的序列多态性和单体型的分布情况。方法PCR-测序分型方法(sequence-based typing,SBT)对421名随机南方汉族个体的HLA-A、-B、-DRB1基因进行序列分析,进而采用最大似然性方法计算等位基因和单体型的分布频率。结果26个HLA-A等位基因中,频率>0.05的6种常见等位基因A*1101、A*2402、A*0207、A*0201、A*3303和A*0203的频率总和为78.15%;53个HLA-B等位基因中,频率>0.05的5种常见等位基因B*4001、B*4601、B*5801、B*1502和B*1301的频率总和为50.59%;36个HLA-DRB1等位基因中,频率>0.05的7种常见等位基因DRB1*0901、DRB1*1501、DRB1*1202、DRB1*0803、DRB1*1101、DRB1*0405和DRB1*0301的频率总和为60.21%。372条A-B、494条B-DRB1和1658条A-B-DRB1单体型中,分别有39、43和26条单体型,频率>0.005,其频率总和分别为66.07%、58.91%和34.30%,A*0207-B*4601、B*4601-DRB1*0901和A*0207-B*4601-DRB1*0901分别为其最主要单体型。结论获得了中国南方汉族人群HLA-A、-B、-DRB1基因的高分辨等位基因频率和单体型分布数据,进一步为人类学、法医学、移植配型和疾病相关研究提供了信息。

Sequence analysis and haplotye diversity of human leukocyte antigen -A,-B,-DRB1 genes in Han population from Southern China

Objective To analyze the sequence and investigate the haplotype diversity of human leukocyte antigen (HLA)-A,B and DRB1 genes in Chinese Han population from Southern China.Methods A total of 421 randomly selected Chinese Han individuals from Southern China were genotyped by polymerase chain reaction (PCR) sequence based typing (SBT) method for HLA-A,B and DRB1 genes,and then the frequencies of allele and haplotype were estimated by maximum-likehood estimation method.Results Twenty-six HLA-A alleles were obs...