Diversity of HLA-B17 alleles and haplotypes in East Asians and a novel Cw6 allele (Cw*0604) associated with B*5701.

The distribution of HLA-B17 alleles and their association with HLA-A, -C and -DRB1 alleles were investigated in seven East Asian populations Japanese, South Korean, Chinese-Korean, Man, Northern Han, Mongolian and Buryat populations). The B17 alleles were identified from genomic DNA using group-specific polymerase chain reaction (PCR) followed by hybridization with sequence-specific oligonucleotide probes (SSOP). In all of these East Asian populations, except Japanese and Chinese-Koreans, B5701 was detected and strongly associated with A0101, Cw0602 and DRB10701. In contrast, B5801 was detected in all the seven populations and strongly associated with A3303, Cw0302, DRB10301 and DRB11302. The A3303-Cw0302-B5801-DRB11302 haplotype was observed in South Korean, Chinese-Korean, Buryat and Japanese populations, while A3303-Cw0302-B5801-DRB10301 was predominantly observed in the Mongolian population. A similar haplotype, A0101-Cw0302-B5801-DRB11302, was observed in the Buryat population. A novel Cw6 allele, Cw0604, was identified in the Man population. This Cw allele was observed on the haplotype A0101-B5701-DRB10701. Thus, we confirmed, at the sequence level, that the common haplotypes carrying B5701 and B*5801 have been conserved and shared in East Asian populations.