Polymorphisms of human leukocyte antigens (HLA) are important in transplant
ation medicine, anthropologic studies, and paternity testing. We investigat
ed the polymorphisms of HLA classes I and II in the Taiwanese population by
means of serologic typing and polymerase chain reaction (PCR) analysis wit
h sequence-specific primers. We calculated the HLA-A, -B, and -C gene frequ
encies in 673 Taiwanese subjects and the HLA-DRB1, and HLA-DQB1 gene freque
ncies in 204 subjects with available DNA samples. Haplotype frequencies and
linkage-disequilibrium were analyzed on the basis of these data. The commo
n HLA class I antigens were All (gene frequency, 34.9%), A2 (29.3%), A24 (1
5.8%), and A33 (9.8%); EGO (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 H
LA-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 (frequ
ency, 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 t
he 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
fi om two other Chinese populations in mainland China reveals that Taiwanes
e are more closely related to southern Han than to northern Han Chinese.