Gene frequencies and haplotypic associations within the HLA region in 916 unrelated Japanese individuals

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Abstract
The gene frequencies and haplotypic associations within the HLA region have been investigated in 916 unrelated Japanese individuals. HLA class I and class II antigens were studied by conventional serology, and class II alleles, DRB1, DRB3, DQA1, DQB1 and DPB1 were typed by using polymerase‐chain reaction amplification and sequence‐specific oligonucleotide probe (PCR‐SSOP) method. Thirty DRB1, 3 DRB3, 8 DQA1, 15 DQB1 and 13 DPB1 alleles were found in our population. DR‐NJ25, a characteristic antigen in the native American and Asian populations, was observed at 3.0%. This antigen was observed mainly with the DRB1*1403 and 1406 alleles. Twenty‐seven out of 30 DRB1 alleles found in this study had a high positive linkage disequilibrium with DQB1 alleles and 20 of them had an exclusive association with one specific DQA1‐DQB1 combination. The strong association between DRB1 alleles and HLA‐B antigens was the most striking finding in this study. Twenty‐eight out of 30 DRB1 alleles had a positive linkage disequilibrium with 24 HLA‐B antigens (p<0.01). The other two alleles, DRB1*0404 and 1402, were very rare, and their frequencies were 0.2% and 0.1%, respectively. The data presented in this population study should be useful for the studies on anthropology, organ transplantation and disease susceptibility.