Allelic and Haplotypic Diversity of HLA-A, -B, -C, and -DRB1 Genes in Koreans Defined by High-resolution DNA Typing / 대한진단검사의학회지

ABSTRACT

BACKGROUND: In this study, we used high-resolution DNA typing to investigate the distribution of HLA alleles and haplotypes in Koreans. METHODS: HLA-A, -B, -C, and -DRB1 alleles were genotyped at the allelic (4-digit) level in 474 healthy Koreans. HLA genotyping was performed in two steps. Initially, serologic typing or generic-level DNA typing was performed using the PCR-sequence-specific oligonucleotide method, and then allelic DNA typing (exons 2 and 3 for class I, and exon 2 for DRB1) was carried out using the PCR-single-strand conformation polymorphism method or sequence-based typing. HLA allele and haplotype frequencies and linkage disequilibrium values were calculated by the maximum likelihood method using a computer program developed for the 11th International Histocompatibility Workshop. RESULTS: A total of 21 HLA-A, 40 HLA-B, 22 HLA-C, and 29 HLA-DRB1 alleles were found in Koreans. The most frequent alleles in each locus with frequencies of > or =10% were, in decreasing order of frequency, as follows A*2402, A*0201, A*3303; B*5101; C*0102, C*0303; and DRB1*0901. The numbers of two- and three-locus haplotypes with frequencies of >0.5% were as follows 44 A-C, 42 B-C, 51 A-B, 52 B-DRB1, 42 A-C-B, and 34 A-B-DRB1. Thirteen A-B-DRB1 haplotypes with frequencies of > or =1.0% comprised 26.0% of the total haplotypes. The six most common haplotypes were as follows A*3303-B*4403-DRB1*1302 (3.7%), A*3303-B*4403-DRB1*0701 (3.0%), A*3303-B*5801-DRB1*1302 (3.0%), A*2402-B*0702-DRB1*0101 (2.8%), A*3001-B*1302-DRB1*0701 (2.3%), and A*1101-B*1501-DRB1*0406 (2.2%). CONCLUSIONS: The information obtained in this study can be used as basic data for Koreans in the fields of organ transplantation, disease association, and anthropologic studies.