한국인에서 Human Leukocyte Antigen-A, -B, -DR 대립유전자와 일배체형 빈도: 제대혈 1,500단위의 DNA 형별검사
Allele and Haplotype Frequencies of Human Leukocyte Antigen-A, -B, and -DR Loci in Koreans: DNA Typing of 1,500 Cord Blood Units
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Abstract
Background : The HLA system is known to be the most polymorphic genetic system in human, and HLA allele and haplotype distribution varies widely among different ethnic groups. This study was performed to examine the frequencies of HLA alleles and haplotypes in Koreans. Methods : We examined HLA-A, -B, and -DR alleles at the serologic level in 1,500 cord blood units obtained from Koreans using the PCR-sequence specific oligonucleotide (SSO) method. Allele and haplotype frequencies were estimated by the maximum likelihood method using the computer program developed for the 11th International Histocompatibility Workshop. Results : HLA alleles found in Koreans were 12 in A, 31 in B, and 13 in DR loci. Most frequent alleles with frequencies ≥10% in each locus in decreasing order of frequency were: A2, A24, A33, A11; B62; DR4, DR15, DR9, and DR13. Two-locus haplotypes with frequencies ≥0.1% were 104 A-B and 115 B-DR haplotypes, among which those with frequencies ≥1.0% showing significant positive linkage disequilibrium (P≤0.001) were 21 A-B and 20 B-DR haplotypes. A total of 169 AB- DR haplotypes with frequencies ≥0.1% were identified. The results were similar to those of a previous study in 1,600 Koreans, although some differences were noted in the distribution of some less frequent alleles or haplotypes with frequencies ≤0.5%. Conclusions : We provided the allele and haplotype frequencies of HLA-A, -B, and -DR in cord blood units of Korean ethnicity defined by a DNA typing method, which can be used as basic data on Koreans for organ transplantation and disease association studies. (Korean J Lab Med 2008;28: 465-74)
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