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Allelic and Haplotypic Diversity of HLA-A, -B, -C, and-DRB1 Genes in Koreans Defined by High-resolution DNA Typing
DC Field | Value | Language |
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dc.contributor.author | Chung, Hye Yoon | - |
dc.contributor.author | Yoon, Jung Ah | - |
dc.contributor.author | Song, Eun Yung | - |
dc.contributor.author | Han, Bok Youn | - |
dc.contributor.author | Park, Myoung Hee | - |
dc.date.accessioned | 2012-05-24T00:45:32Z | - |
dc.date.available | 2012-05-24T00:45:32Z | - |
dc.date.issued | 2010-12 | - |
dc.identifier.citation | KOREAN JOURNAL OF LABORATORY MEDICINE; Vol.30 6; 685-696 | ko_KR |
dc.identifier.issn | 1598-6535 | - |
dc.identifier.uri | https://hdl.handle.net/10371/76368 | - |
dc.description.abstract | 배경 : HLA 형별은 혈청학적 수준(generic level)에서도 다형성이 심하지만 대립유전자 수준에서는 더욱 심한 다형성을 보이고 인종 간에 큰 차이를 나타내는 것으로 알려졌다. 본 연구에서는 고해상도 DNA 검사법을 이용하여 한국인에서 HLA대립유전자 형별과 일배체형의 종류 및 빈도를 알아보고자 하였다. 방법 : 건강한 한국인 474명을 대상으로 HLA-A, -B, -C, -DRB1 유전자에 대해 두 단계의 검사로 대립유전자(4자리수)
형별 분석을 실시하였다. 1단계로 혈청학적 수준의 형별검사를 혈청학적 검사법이나 sequence-specific oligonucleotide(PCR-SSO) 방법으로 시행하였고, 그 다음 단계로 대립유전자 형별검사를 class I은 exon 2와 exon3, DRB1은 exon 2에 대해 single-strand conformation polymorphism (PCR-SSCP) 또는 직접염기서열분석법을 이용하여 실시하였다. HLA 대립 유전자의 유전자 빈도, 일배체형 빈도, 연쇄불평형 값은 maximum likelihood 원리에 근거한 제11차 국제조직적합성워크숍 컴퓨터 프로그램을 이용하여 산출하였다. 결과 : 한국인에서 검출된 HLA-A, -B, -C, DRB1 대립유전자 형별은 각각 21, 40, 22, 29종이었다. 이 중에 유전자 빈도 10% 이상을 보인 대립유전자 형별(빈도순 나열)은 A*02:01, A*24:02, A*33:03; B*51:01; C*01:02, C*03:03; RB1*09:01등이었다. HLA 일배체형의 분석 결과 0.5% 이상의 빈도를 나타내는 2-유전자좌 일배체형은 A-C 44종, B-C 42종, A-B 51종, B-DRB1 52종이었고, 3-유전자좌 일배체형은 A-C-B 42종, A-B-DRB1 34종이었다. 한국인에서 빈도 1% 이상의 A-B-DR 일배체형은 13종으로, 전체 일배체형의 26.0%를 차지하였고, 2% 이상으로 가장 흔한 A-B-DR 일배체형은 A*33:03-B*44:03-DRB1*13:02 (3.7%), A*33:03-B*44:03-DRB1*07:01 (3.0%), A*33:03-B*58:01-DRB1*13:02 (3.0%), A*24:02-B*07:02-DRB1*01:01 (2.8%), A*30:01-B*13:02-DRB1* 07:01 (2.3%), A*11:01-B*15:01-DRB1*04:06 (2.2%) 등 6종이었다. 결론 : 본 연구를 통해 한국인의 대립유전자 수준의 HLA 형별과 HLA 일배체형 빈도에 대한 자료를 제시하였으며, 본 연구의 결과는 한국인에서 장기이식, 질환연관성 연구, 인류유전학적 연구 등에서 중요한 기초자료로 이용될 수 있을 것으로 기대된다. 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 FOR-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 FOR-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 >= 10% were, in decreasing order of frequency, as follows: A star 24:02, A star 02:01, A(star)33:03; B(star)51:01; C(star)01:02, C(star)03:03; and DRB1(star)09:01. 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 >= 1.0% comprised 26.0% of the total haplotypes. The six most common haplotypes were as follows: A(star)33:03-B(star)44:03-DRB1(star)3:02 (3.7%), A(star)33:03-B(star)44:03-DRB1(star)07:01 (3.0%), A(star)33:03-B(star)58: 01-DRB1(star)13:02 (3.0%), A(star)24:02-B(star)07:02-DRB1(star)01:01 (2.8%), A(star)30:01-B(star)13:02-DRB1(star)07:01 (2.3%), and A(star)11:01-B(star)15:01-DR81(star)04:06 (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. (Korean J Lab Med 2010;30:685-96) | ko_KR |
dc.language.iso | ko | ko_KR |
dc.publisher | KOREAN SOC LABORATORY MEDICINE | ko_KR |
dc.subject | HLA | ko_KR |
dc.subject | Korean | ko_KR |
dc.subject | Allele | ko_KR |
dc.subject | DNA typing | ko_KR |
dc.subject | Haplotype | ko_KR |
dc.title | Allelic and Haplotypic Diversity of HLA-A, -B, -C, and-DRB1 Genes in Koreans Defined by High-resolution DNA Typing | ko_KR |
dc.type | Article | ko_KR |
dc.contributor.AlternativeAuthor | 정혜윤 | - |
dc.contributor.AlternativeAuthor | 송은영 | - |
dc.contributor.AlternativeAuthor | 박명희 | - |
dc.contributor.AlternativeAuthor | 한복연 | - |
dc.contributor.AlternativeAuthor | 윤정아 | - |
dc.identifier.doi | 10.3343/kjlm.2010.30.6.685 | - |
dc.citation.journaltitle | KOREAN JOURNAL OF LABORATORY MEDICINE | - |
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