title: Allele and Haplotype Frequencies of Human Leukocyte Antigen-A, -B, -C, -DRB1, and -DQB1 From Sequence-Based DNA Typing Data in Koreans.
abstract: BACKGROUND
  Data on allele frequencies (AFs) and haplotype frequencies (HFs) of HLA-C and -DQB1 are limited in Koreans. We investigated AFs and HFs of HLA-A, -B, -C, -DRB1, and -DQB1 in Koreans by high-resolution sequence-based typing (SBT).
  
  
  METHODS
  Hematopoietic stem cells were obtained from 613 healthy, unrelated donors to analyze HLA-A, -B, -C, -DRB1, and -DQB1 genotypes by using AlleleSEQR HLA-A, -B, -C, -DRB1, and -DQB1 SBT kits (Abbott Molecular, USA), respectively. Alleles belonging to HLA-C*07:01/07:06 group were further discriminated by using PCR-sequence specific primer analysis. AFs and HFs were calculated by direct counting and maximum likelihood method, respectively.
  
  
  RESULTS
  In all, 24 HLA-A, 46 HLA-B, 24 HLA-C, 29 HLA-DRB1, and 15 HLA-DQB1 alleles were identified. AFs and HFs of HLA-A, -B, and -DRB1 were similar to those reported previously. For the HLA-C locus, C*01:02 was the most common allele, followed by C*03:03, C*03:04, C*14:02, C*03:02, and C*07:02 (AF ≥7%). AFs of C*07:01 and C*07:06 were 0.16% and 3.18%, respectively. For the HLA-DQB1 locus, DQB1*03:01 was the most common allele, followed by DQB1*03:03, *03:02, *06:01, *05:01, *04:01, and *06:02 (AF ≥7%). AFs of DQB1*02:01 and DQB1*02:02 were 2.12% and 6.69%, respectively. HFs of A*33:03-C*07:06 and C*07:06-B*44:03 were 3.09% and 3.10%, respectively, while those of DRB1*07:01-DQB1*02:02 and DRB1*03:01-DQB1*02:01 were 6.61% and 2.04%, respectively.
  
  
  CONCLUSIONS
  This study reported AFs and HFs of HLA, including HLA-C and -DQB1, in Koreans by using high-resolution SBT. These data can be used to resolve ambiguous results of HLA typing for organ and hematopoietic stem cell transplantations.
authors.affiliation: Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Ji Won
authors.initials: JW
authors.lastname: In
authors.affiliation: Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Eun Youn
authors.initials: EY
authors.lastname: Roh
authors.affiliation: Department of Biostatistics, Seoul National University Boramae Medical Center, Seoul, Korea.
authors.forename: Sohee
authors.initials: S
authors.lastname: Oh
authors.affiliation: Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Sue
authors.initials: S
authors.lastname: Shin
authors.affiliation: Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Kyoung Un
authors.initials: KU
authors.lastname: Park
authors.affiliation: Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea. ; Department of Molecular Medicine and Biopharmaceutical Sciences, Graduate School of Convergence Science and Technology and College of Medicine, Medical Research Center, Seoul National University, Seoul, Korea.
authors.forename: Eun Young
authors.initials: EY
authors.lastname: Song
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D005787:Gene Frequency; D015234:HLA-A Antigens / Q000737:chemistry / Q000235:genetics*; D015235:HLA-B Antigens / Q000737:chemistry / Q000235:genetics*; D015236:HLA-C Antigens / Q000737:chemistry / Q000235:genetics*; D059866:HLA-DQ beta-Chains / Q000737:chemistry / Q000235:genetics*; D059811:HLA-DRB1 Chains / Q000737:chemistry / Q000235:genetics*; D006239:Haplotypes; D006412:Hematopoietic Stem Cells / Q000166:cytology / Q000378:metabolism; D006650:Histocompatibility Testing; D006801:Humans; D016013:Likelihood Functions; D056910:Republic of Korea; D017422:Sequence Analysis, DNA
chemical_list: D015234:HLA-A Antigens; D015235:HLA-B Antigens; D015236:HLA-C Antigens; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; D059811:HLA-DRB1 Chains
keywords: Alleles; Frequency; HLA antigens; Haplotypes; Korea; Sequence analysis