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

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*07:01/07:06 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, C01:02 was the most common allele, followed by C03:03, C03:04, C14:02, C03:02, and C07:02 (AF ≥7%). AFs of C07:01 and C07:06 were 0.16% and 3.18%, respectively. For the HLA-DQB1 locus, DQB103:01 was the most common allele, followed by DQB103:03, 03:02, 06:01, 05:01, 04:01, and 06:02 (AF ≥7%). AFs of DQB102:01 and DQB102:02 were 2.12% and 6.69%, respectively. HFs of A33:03-C07:06 and C07:06-B44:03 were 3.09% and 3.10%, respectively, while those of DRB107:01-DQB102:02 and DRB103:01-DQB1*02:01 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.