Allele and Haplotype Frequencies of Human Leukocyte Antigen-A, -B, -C, -DRB1, and -DQB1 From Sequence-Based DNA Typing Data in Koreans

ABSTRACT

BACKGROUND: Data on allele frequencies (AFs) and haplotype frequencies (HFs) of HLA-C and -DQB1 are limited in Koreans. We investigated AFs and HFs of HLA-A, -B, -C, -DRB1, and -DQB1 in Koreans by high-resolution sequence-based typing (SBT). METHODS: Hematopoietic stem cells were obtained from 613 healthy, unrelated donors to analyze HLA-A, -B, -C, -DRB1, and -DQB1 genotypes by using AlleleSEQR HLA-A, -B, -C, -DRB1, and -DQB1 SBT kits (Abbott Molecular, USA), respectively. Alleles belonging to HLA-C*0701/0706 group were further discriminated by using PCR-sequence specific primer analysis. AFs and HFs were calculated by direct counting and maximum likelihood method, respectively. RESULTS: In all, 24 HLA-A, 46 HLA-B, 24 HLA-C, 29 HLA-DRB1, and 15 HLA-DQB1 alleles were identified. AFs and HFs of HLA-A, -B, and -DRB1 were similar to those reported previously. For the HLA-C locus, C*0102 was the most common allele, followed by C*0303, C*0304, C*1402, C*0302, and C*0702 (AF > or =7%). AFs of C*0701 and C*0706 were 0.16% and 3.18%, respectively. For the HLA-DQB1 locus, DQB1*0301 was the most common allele, followed by DQB1*0303, *0302, *0601, *0501, *0401, and *0602 (AF > or =7%). AFs of DQB1*0201 and DQB1*0202 were 2.12% and 6.69%, respectively. HFs of A*3303-C*0706 and C*0706-B*4403 were 3.09% and 3.10%, respectively, while those of DRB1*0701-DQB1*0202 and DRB1*0301-DQB1*0201 were 6.61% and 2.04%, respectively. CONCLUSIONS: This study reported AFs and HFs of HLA, including HLA-C and -DQB1, in Koreans by using high-resolution SBT. These data can be used to resolve ambiguous results of HLA typing for organ and hematopoietic stem cell transplantations.