HLA-DQB1 allele frequencies and haplotypic associations with DRB1 genes in Koreans

Lim, Young Ae; Kwak, Yun Sik

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.