Distribution of HLA gene and haplotype frequencies in Taiwan: a comparative study among Min-nan, Hakka, Aborigines and Mainland Chinese

A total of 8,497 blood samples were typed for HLA-A, B, DR and DQ. Oi these , 7,137 Min-nan, 714 Hakka, 535 Mainland Chinese (152 from North China, 211 from Middle China, and 172 from South China) and 111 Aborigines were rando mly selected from Tzu Chi Taiwan Marrow Donor Registry (TCTMDR). Difference s in HLA gene and antigen frequencies have been observed between various et hnic groups oi the Chinese population in Taiwan. The phylogenic tree shows Taiwan Aborigines and Javanese cluster together; Min-nan sharps a common cl uster with Hakka, Southern Hans and Thai; and Northern Hans shares a cluste r with Middle Hens. The separation between Northern/Middle and Southern Chi nese Hans support the idea that Northern and Southern Chinese have differen t genetic background. Aborigines appeared to be quite distinct in the distr ibution of a majority of the class I and class II antigens. High frequency of HLA-A24 (60.4%) and relatively restricted HL4 polymorphisms are noted in Aborigines. The HLA haplotypes with high frequency in Aborigines included A24-B60-DRB1*04, A24-B60-DRB1*14, X24-B48-DRB1*04, and A24-B48-DRB1*14, whi ch are different from the other ethnic groups. Although the phylogenic tree separates Aborigines and Han Chinese populations, 4 out of 20 most common HLA-A, -B, and -DR haplotypes presented in both Aborigines and Han Chinese mag. reflect an ancient common origin or intermixture between early settler s of Han Chinese and Taiwan Aborigines. The results in this study are essen tially a summary of the observed gene/haplotype frequencies and differences among various ethnic groups in Taiwan.