Distribution of HLA-A, B, C Allele and Haplotype Frequencies in Koreans / 대한진단검사의학회지

ABSTRACT

BACKGROUND: The HLA system is known to be the most polymorphic gene cluster in the human genome. HLA allele and haplotype distribution varies widely among different ethnic groups. In this study, we examined the frequency of HLA class I alleles and haplotypes in 309 healthy Koreans. METHODS: We typed HLA-A, -B, and -C genes at the allelic level in 109 unrelated Korean individuals using a sequence-based typing. With the additional data of 200 healthy Koreans from dbMHC (http //www.ncbi.nlm.nih.gov/mhc/), allele and haplotype frequencies were estimated by the maximum likelihood method. Serological typing results of 49 individuals were compared with the results highly resolved. RESULTS: A total of 22 HLA-A, 41 HLA-B, and 21 HLA-C alleles were found in this study. Alleles showing frequencies of more than 10% in each HLA locus were A*2402 (22.5%), A*0201 (15.7%), A*3303 (14.4%), A*1101 (11.0%), B*5101 (12.1%), Cw*0102 (18.8%), and Cw*1402 (10.2%). The most common A-B-C haplotypes at a frequency of more than 3% were A*3303-B*5801-Cw*0302 (5.2%), A*2402-B*5101-Cw*1402 (4.5%), A*1101-B*1501-Cw*0401 (4.3%), A*3303-B*4403-Cw*1403 (4.0%), A*3001-B*1302-Cw*0602 (3.7%), and A*0207-B*4601-Cw*0102 (3.2%). Misassignment of HLA-C antigen by serotyping was detected in 11 (22.4%) of 49 individuals. CONCLUSIONS: Our results will be useful as a basic data for studies on anthropology, disease association, and bone marrow transplantation. Misidentification of HLA-C by serotyping is so high that it would be desirable to perform a DNA typing especially in unrelated bone marrow transplantation.