PMID- 15853898 OWN - NLM STAT- MEDLINE DCOM- 20050919 LR - 20221207 IS - 0001-2815 (Print) IS - 0001-2815 (Linking) VI - 65 IP - 5 DP - 2005 May TI - Allelic and haplotypic diversity of HLA-A, -B, -C, -DRB1, and -DQB1 genes in the Korean population. PG - 437-47 AB - High-resolution human leukocyte antigen (HLA) typing exposes the unique patterns of HLA allele and haplotype frequencies in each population. In this study, HLA-A, -B, -C, -DRB1, and -DQB1 genotypes were analyzed in 485 apparently unrelated healthy Korean individuals. A total of 20 HLA-A, 43 HLA-B, 21 HLA-C, 31 HLA-DRB1, and 14 HLA-DQB1 alleles were identified. Eleven alleles (A*0201, A*1101, A*2402, A*3303, B*1501, Cw*0102, Cw*0302, Cw*0303, DQB1*0301, DQB1*0302, and DQB1*0303) were found in more than 10% of the population. In each serologic group, a maximum of three alleles were found with several exceptions (A2, B62, DR4, DR14, and DQ6). In each serologic group exhibiting multiple alleles, two major alleles were present at 62-96% (i.e. A*0201 and A*0206 comprise 85% of A2-positive alleles). Multiple-locus haplotypes estimated by the maximum likelihood method revealed 51 A-C, 43 C-B, 52 B-DRB1, 34 DRB1-DQB1, 48 A-C-B, 42 C-B-DRB1, 46 B-DRB1-DQB1, and 30 A-C-B-DRB1-DQB1 haplotypes with frequencies of more than 0.5%. In spite of their high polymorphism in B and DRB1, identification of relatively small numbers of two-locus (B-C and DRB1-DQB1) haplotypes suggested strong associations of those two loci, respectively. Five-locus haplotypes defined by high-resolution DNA typing correlated well with previously identified serology-based haplotypes in the population. The five most frequent haplotypes were: A*3303-Cw*1403-B*4403-DRB1*1302-DQB1*0604 (4.2%), A*3303-Cw*0701/6-B*4403-DRB1*0701-DQB1*0201/2 (3.0%), A*3303-Cw*0302-B*5801-DRB1*1302-DQB1*0609 (3.0%), A*2402-Cw*0702-B*0702-DRB1*0101-DQB1*0501 (2.9%), and A*3001-Cw*0602-B*1302-DRB1*0701-DQB1*0201/2 (2.7%). Several sets of allele level haplotypes that could not be discriminated by routine HLA-A, -B, and -DRB1 low-resolution typing originated from allelic diversity of A2, B61, DR4, and DR8 serologic groups. Information obtained in this study will be useful for medical and forensic applications as well as in anthropology. FAU - Lee, K W AU - Lee KW AD - Hallym Institution for Genome Application, Hallym University, Sacred Heart Hospital, #896 Pyungchon-Dong, Dongan-Ku, Anyang, Kyungki-Do 431-070, Korea. leekw@hallym.or.kr FAU - Oh, D H AU - Oh DH FAU - Lee, C AU - Lee C FAU - Yang, S Y AU - Yang SY LA - eng GR - P01 CA 23766/CA/NCI NIH HHS/United States PT - Comparative Study PT - Journal Article PT - Research Support, N.I.H., Extramural PT - Research Support, Non-U.S. Gov't PT - Research Support, U.S. Gov't, Non-P.H.S. PT - Research Support, U.S. Gov't, P.H.S. PL - England TA - Tissue Antigens JT - Tissue antigens JID - 0331072 RN - 0 (HLA-A Antigens) RN - 0 (HLA-B Antigens) RN - 0 (HLA-C Antigens) RN - 0 (HLA-DQ Antigens) RN - 0 (HLA-DQ beta-Chains) RN - 0 (HLA-DQB1 antigen) RN - 0 (HLA-DR Antigens) RN - 0 (HLA-DRB1 Chains) SB - IM MH - Alleles MH - Asian People/genetics MH - Ethnicity/genetics MH - Gene Frequency MH - Genotype MH - HLA-A Antigens/genetics MH - HLA-B Antigens/genetics MH - HLA-C Antigens/genetics MH - HLA-DQ Antigens/genetics MH - HLA-DQ beta-Chains MH - HLA-DR Antigens/genetics MH - HLA-DRB1 Chains MH - Haplotypes/*genetics MH - Humans MH - Japan/ethnology MH - Korea MH - Likelihood Functions MH - Major Histocompatibility Complex/*genetics MH - Polymerase Chain Reaction EDAT- 2005/04/28 09:00 MHDA- 2005/09/20 09:00 CRDT- 2005/04/28 09:00 PHST- 2005/04/28 09:00 [pubmed] PHST- 2005/09/20 09:00 [medline] PHST- 2005/04/28 09:00 [entrez] AID - TAN386 [pii] AID - 10.1111/j.1399-0039.2005.00386.x [doi] PST - ppublish SO - Tissue Antigens. 2005 May;65(5):437-47. doi: 10.1111/j.1399-0039.2005.00386.x.