Allelic and haplotypic diversity of HLA-A, -B, -C, -DRB1, and -DQB1 genes in the Korean population
Allelic and haplotypic diversity of HLA-A, -B, -C, -DRB1, and -DQB1 genes in the Korean population
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DOI：
10.1111/j.1399-0039.2005.00386.x
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发表时间：
2005-05-01
期刊：
影响因子：
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通讯作者：
Yang, SY
中科院分区：
文献类型：
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作者：
Lee, KW;Oh, DH;Yang, SY
高分辨率人类白细胞抗原（HLA）分型揭示了每个人群中HLA等位基因和单倍型频率的独特模式。在这项研究中，HLA-A，-B，-C，-DRB 1，和-DQB 1基因型进行了分析，在485个明显无关的健康韩国人。共鉴定出20个HLA-A、43个HLA-B、21个HLA-C、31个HLA-DRB 1和14个HLA-DQB 1等位基因。11个等位基因（A*0201、A*1101、A*2402、A*3303、B*1501、Cw*0102、Cw *0302、Cw * 0303、DQB 1 *0301、DQB 1 *0302和DQB 1 *0303）在超过10%的人群中被发现。在每个血清学组中，最多发现3个等位基因，但有几个例外（A2、B62、DR 4、DR 14和DQ 6）。在表现出多个等位基因的每个血清学组中，两个主要等位基因以62-96%存在（即A*0201和A*0206占A2阳性等位基因的85%）。最大似然法估计的多位点单倍型中，频率大于0.5%的单倍型有A-C 51个，C-B 43个，B-DRB 1 52个，DRB 1-DQB 1 34个，A-C-B 48个，C-B-DRB 1 42个，B-DRB 1-DQB 1 46个，A-C-B-DRB 1-DQB 1 30个。尽管B和DRB 1具有高度的多态性，但相对少量的两个位点（B-C和DRB 1-DQB 1）单倍型的鉴定分别表明这两个位点的强关联。高分辨率DNA分型定义的五个位点的单倍型与以前确定的基于血清学的单倍型的人口。最常见的五种单倍型是：A*3303-Cw*1403-B*4403-DRB 1 *1302-DQB 1 *0604（4.2%），A*3303-Cw*0701/6-B*4403-DRB 1 *0701-DQB 1 *0201/2（3.0%），A*3303-Cw*0302-B*5801-DRB 1 *1302-DQB 1 *0609 A*2402-Cw*0702-B*0702-DRB 1 *0101-DQB 1 *0501（2.9%）和A*3001-Cw*0602-B*1302-DRB 1 *0701-DQB 1 *0201/2（2.7%）。常规HLA-A、-B和-DRB 1低分辨分型不能区分的几组等位基因水平单倍型来自A2、B61、DR 4和DR 8血清学组的等位基因多样性。本研究中获得的信息将有助于医学和法医学应用以及人类学。
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.