Shen S W, Hu C Y, Lin C Y, Yang Y C, Hsieh R P
Department of Laboratory Medicine, National Taiwan University Hospital, Taipei.
J Formos Med Assoc. 1999 Jan;98(1):11-8.
Polymorphisms of human leukocyte antigens (HLA) are important in transplantation medicine, anthropologic studies, and paternity testing. We investigated the polymorphisms of HLA classes I and II in the Taiwanese population by means of serologic typing and polymerase chain reaction (PCR) analysis with sequence-specific primers. We calculated the HLA-A, -B, and -C gene frequencies in 673 Taiwanese subjects and the HLA-DRB1, and HLA-DQB1 gene frequencies in 204 subjects with available DNA samples. Haplotype frequencies and linkage-disequilibrium were analyzed on the basis of these data. The common HLA class I antigens were A11 (gene frequency, 34.9%), A2 (29.3%), A24 (15.8%), and A33 (9.8%); B60 (21.9%), B46 (13.1%), B58 (9.7%), and B13 (8.5%); and Cw1 (18.8%), Cw7 (15.3%), and Cw10 (10.7%). The common HLA-DRB1 and HLA-DQB1 alleles were DRB112 (15.2%), DRB109 (15.2%), DRB108 (12.0%), and DRB104 (12.0%); and DQB10301 (23.5%), DQB10303 (15.2%), DQB10601 (14.5%), and DQB102 (10.8%). The common two-locus haplotypes were A2-B46 (frequency, 9. 7%), A11-B60 (9.6%), and A33-B58 (6.8%); DRB109-DQB10303 (14.9%), DRB112-DQB10301 (14.2%), and DRB108-DQB10601 (10.7%). This study is the first to report the gene frequencies of HLA-DQB1 alleles and the common HLA-DR-DQ haplotypes among Taiwanese. Comparison of our results with those from two other Chinese populations in mainland China reveals that Taiwanese are more closely related to southern Han than to northern Han Chinese.
人类白细胞抗原（HLA）多态性在移植医学、人类学研究及亲子鉴定中具有重要意义。我们通过血清学分型及序列特异性引物聚合酶链反应（PCR）分析，对台湾人群的HLAⅠ类和Ⅱ类多态性进行了研究。我们计算了673名台湾受试者的HLA - A、- B和- C基因频率，以及204名有可用DNA样本受试者的HLA - DRB1和HLA - DQB1基因频率。基于这些数据对单倍型频率及连锁不平衡进行了分析。常见的HLAⅠ类抗原为A11（基因频率34.9%）、A2（29.3%）、A24（15.8%）和A33（9.8%）；B60（21.9%）、B46（13.1%）、B58（9.7%）和B13（8.5%）；以及Cw1（18.8%）、Cw7（15.3%）和Cw10（10.7%）。常见的HLA - DRB1和HLA - DQB1等位基因分别为DRB112（15.2%）、DRB109（15.2%）、DRB108（12.0%）和DRB104（12.0%）；以及DQB10301（23.5%）、DQB10303（15.2%）、DQB10601（14.5%）和DQB102（10.8%）。常见的两位点单倍型为A2 - B46（频率9.7%）、A11 - B60（9.6%）和A33 - B58（6.8%）；DRB109 - DQB10303（14.9%）、DRB112 - DQB10301（14.2%）和DRB108 - DQB10601（10.7%）。本研究首次报道了台湾人群中HLA - DQB1等位基因及常见HLA - DR - DQ单倍型的基因频率。将我们的结果与中国大陆另外两个汉族人群的结果相比较，发现台湾人群与中国南方汉族的关系比与北方汉族更为密切。
