HLA-DQB1 Allele Frequencies and Haplotypic Associations with DRB1 Genes in Koreans

Abstract

BACKGROUND: The HLA-DR and DQ genes are known to show in strong linkage disequilibrium. Authors investigated the allele frequencies of HLA-DQB1 genes and HLA-DQB1-DRB1 haplotypic associations in Koreans. METHODS: HLA-DRB1 and DQB1 typing were performed in 120 unrelated Koreans consisting of normal tissue donors and patients with hematologic diseases using polymerase chain reaction-reverse dot blot hybridization method with INNO-LiPA HLA-DRB and DQB kits (INNOGENETICS, Zwijndrecht, Belgium). Haplotypic associations between DRB1 and DQB1 alleles were calculated according to the formula from Mattiuz et al. RESULTS: 1. Allele frequencies of the five most common DQB1 alleles were DQB1* 0301, 14.4%; 0303, 11.0%; 0302, 9.6%; 0601, 9.2%; 0401, 8.7%. 2. Haplotype frequencies (%) of the ten most common DQB1*-DRB1* haplotypes were 0303-0901, 9.17%; 0401-0405, 8.71%; 0602-1501/03/04, 7.35%; 0501-0101, 7.35%; 0601-0803, 5.98%; 0609-1302, 5.10%; 0503-1405, 4.69%; 0302-0406, 4.26%; 0301-1101/10/12 or 1104, 4.26%; 02-0701, 4.23%. They consisted 61.1% of total haplotypes in this study. CONCLUSIONS: The results of this study may be useful as basic data of Koreans for anthropology, accurate interpretaion of DRB1 and DQB1 typing and quality control of genotyping.