Korean J Lab Med.  2010 Dec;30(6):685-696. 10.3343/kjlm.2010.30.6.685.

Allelic and Haplotypic Diversity of HLA-A, -B, -C, and -DRB1 Genes in Koreans Defined by High-resolution DNA Typing

• Chung HY
• Yoon JA
• Han BY
• Song EY
• Park MH

• KMID: 1781677
• DOI: http://doi.org/10.3343/kjlm.2010.30.6.685

Abstract

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 PCR-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 PCR-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 > or =10% were, in decreasing order of frequency, as follows: A*24:02, A*02:01, A*33:03; B*51:01; C*01:02, C*03:03; and DRB1*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 > or =1.0% comprised 26.0% of the total haplotypes. The six most common haplotypes were as follows: 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%), and A*11:01-B*15:01-DRB1*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.

Keyword

HLA; Allele; Haplotype; DNA typing; Korean

MeSH Terms

Alleles
Asian Continental Ancestry Group/*genetics
DNA Fingerprinting/methods
Gene Frequency
Genetic Variation
Genotype
HLA-A Antigens/*genetics
HLA-B Antigens/*genetics
HLA-C Antigens/*genetics
HLA-DR Antigens/*genetics
Haplotypes
Humans
Republic of Korea

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