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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 distribution of HLA-A * 02 alleles in the bone marrow of Han nationality in Sichuan and to analyze the haplotypes of HLA-A, HLA-B and -DRB1. Methods A total of 4508 HLA-A * 02-positive samples of 8934 Sichuan Han nationality hematopoietic stem cell volunteers from China Marrow Bank were randomly screened for 110 isolates and the HLA-A * 02 alleles were sequenced by PCR-SBT typing .χ2 test was used to compare the allele distribution of A * 02 alleles in Han nationality of Sichuan province, five Asian countries and Asian countries and Asian Americans, and the maximum likelihood method was used to calculate HLA-A, B and -DRB1 3 Site haplotype frequency. Results A total of 5 A * 02 alleles were detected. A * 0207 (49.59%) was the dominant allele, followed by A * 02 0101 (25.62%), A * 02 0301 0601 (4.96%), A * 02 05 (0.83%). Compared with other six Asian populations, HLA-A * 02 allele distribution was not statistically significant in Taiwanese bone marrow Han population (P> 0.05), but not with Taiwanese population , Japan, South Korea and other groups were statistically significant (P <0.01). HLA-A * 0207-B * 46-DRB1 * 09 is the most common haplotype in the Han bone population of Sichuan bone marrow. Conclusion The distribution of HLA-A * 02 alleles in Sichuan Han population is in line with the distribution characteristics of southern Han Chinese population, but more concentrated.