Human leukocyte antigen polymorphisms in the Taiwanese population.

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 DRB1*12 (15.2%), DRB1*09 (15.2%), DRB1*08 (12.0%), and DRB1*04 (12.0%); and DQB1*0301 (23.5%), DQB1*0303 (15.2%), DQB1*0601 (14.5%), and DQB1*02 (10.8%). The common two-locus haplotypes were A2-B46 (frequency, 9. 7%), A11-B60 (9.6%), and A33-B58 (6.8%); DRB1*09-DQB1*0303 (14.9%), DRB1*12-DQB1*0301 (14.2%), and DRB1*08-DQB1*0601 (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.