四川骨髓库汉族人群HLA-A＊ 02等位基因分布

HLA-A~＊ 02 diversity of Han donors from Sichuan Marrow Donor Program,China

目的研究四川骨髓库汉族人群HLA-A* 02等位基因分布,分析HLA-A和HLA-B、-DRB1的单体型。方法在中华骨髓库四川分库8934名四川汉族造血干细胞志愿者4508份HLA-A* 02阳性样本中随机筛选110份,采用PCR-SBT分型技术对HLA-A* 02等位基因进行测序分析,用χ2检验比较四川骨髓库汉族与亚洲5个不同国家和地区以及美国亚裔人群A* 02等位基因分布的差异,并采用最大似然法计算HLA-A、-B和-DRB1的3位点单体型频率。结果共检出5种A* 02等位基因,A* 0207(49.59%)是优势等位基因,其余依次是A*02 0101(25.62%),A*02 0301(19.01%),A*02 0601(4.96%),A*02 05(0.83%)。同其它6个亚裔人群的相比,四川骨髓库汉族人群的HLA-A* 02等位基因分布与台湾人群的比较无统计学意义(P>0.05),而与香港,北京,美国亚太裔,日本,韩国等人群的比较均有统计学意义(P<0.01)。HLA-A* 0207-B*46-DRB1*09是四川骨髓库汉族人群最常见的单体型。结论四川汉族人群HLA-A* 02等位基因的分布符合南方汉族人群的分布特点,但更为集中。

Objective To investigate the allele distribution of HLA-A＊ 02 gene family and analyze the HLA-A, -B, -DRB1 associated haplotype diversity of Han population from Sichuan Marrow Donor Programe. Methods A total of 110 samples were randomly selected from 4508 A＊ 02-positive samples in 8934 Sichuan Han individuals registered with the CMDP. HLA-A＊ 02 alleles were identified by sequence based typing. Chi-square test was applied to compare the A＊ 02 allele distribution in Sichuan Han with other Asian populations. The frequencies of HLA-A, -B and -DRB1 haplotypes were calculated with maximum-likelihood method. Results Five different HLA-A＊ 02 alleles were detected. A＊ 0207（49.59%） was the predominant allele, followed by A＊ 020101（25.62%）, A＊ 020301（19.01%）, A＊ 020601（4.96%）, A＊ 0205（0.83%）. Comparison of the HLA-A＊ 02 alleles distributions with different populations showed no difference between Sichuan Han and Taiwan Residents （P0.05）, whereas there was significant difference between Sichuan Han and populations from Hong Kong, Beijing, Japan, Korea and Asian American. HLA-A＊ 0207-B＊ 46-DRB1＊ 09 is the most common allelic haplotype. Conclusions The distribution of HLA-A＊ 02 alleles in Sichuan Han population is consistent with that of southern Han population, except for lower genetic diversity.