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韩国人群人类白细胞抗原-G 的等位基因频率。

Allele frequencies of human leukocyte antigen-G in a Korean population.

机构信息

Department of Laboratory Medicine, Kwandong University College of Medicine, Goyang, Korea.

出版信息

Int J Immunogenet. 2012 Feb;39(1):39-45. doi: 10.1111/j.1744-313X.2011.01053.x. Epub 2011 Oct 29.

DOI:10.1111/j.1744-313X.2011.01053.x
PMID:22035429
Abstract

The human leukocyte antigen (HLA)-G is a nonclassical major histocompatibility complex class I molecule with relatively limited polymorphism. The differences in allele frequency according to ethnicity and country have not been studied enough, so far. Therefore, fundamental data including allele frequencies and polymorphism are needed for studies on immunological function of HLA-G in each population. We investigated allele frequencies and 14-bp polymorphism of the HLA-G in Koreans. HLA-G alleles and 14-bp polymorphisms were determined by sequence-based typing analysis of exons 2-4 and polymerase chain reaction of exon 8 in 200 unrelated individuals. Genotyping analysis identified eight different HLA-G alleles, which indicates that the Korean population presents limited HLA-G allelic polymorphism. HLA-G01:01:01:01 and G01:04:01 were frequent alleles (42.5% and 34.0%), and allelic frequencies were similar to those of other Asian populations. The 14-bp deletion alleles are higher (78%) in Koreans, although the frequencies of the 14-bp insertion/deletion polymorphism have been known to be nearly equal in many Caucasian populations. HLA-G*01:01:08 was reported strong linkage disequilibrium with the 14-bp deletion in a previous report; the same allele was accompanied with 14-bp insertion in our study. There are a few studies investigating allele frequencies, and most of them were studied before high-resolution method era. This is the first study regarding HLA-G genotypes in Korean, which were identified by high-resolution method. From this study, we identified HLA-G frequencies of a Korean population and expect this study could help further investigations for immunological and clinical implications of HLA-G.

摘要

人类白细胞抗原 (HLA)-G 是一种非经典的主要组织相容性复合体 I 类分子,其多态性相对有限。根据种族和国家的等位基因频率差异尚未得到充分研究,到目前为止。因此,需要在每个群体中研究 HLA-G 免疫功能的基本数据,包括等位基因频率和多态性。我们研究了韩国人群 HLA-G 的等位基因频率和 14 个碱基对的多态性。通过对 200 个无关个体的外显子 2-4 的基于序列的分型分析和外显子 8 的聚合酶链反应,确定了 HLA-G 等位基因和 14 个碱基对的多态性。基因分型分析确定了 8 种不同的 HLA-G 等位基因,这表明韩国人群 HLA-G 等位基因多态性有限。HLA-G01:01:01:01 和 G01:04:01 是常见的等位基因(42.5%和 34.0%),等位基因频率与其他亚洲人群相似。虽然在许多白种人群中,14 个碱基对插入/缺失多态性的频率几乎相等,但韩国人的 14 个碱基对缺失等位基因频率较高(78%)。HLA-G*01:01:08 在之前的报道中与 14 个碱基对缺失呈强连锁不平衡;在我们的研究中,相同的等位基因伴随着 14 个碱基对的插入。有少数研究调查了等位基因频率,而且大多数研究都是在高分辨率方法时代之前进行的。这是第一项关于韩国人 HLA-G 基因型的研究,这些基因型是通过高分辨率方法确定的。从这项研究中,我们确定了韩国人群 HLA-G 的频率,希望这项研究能够有助于进一步研究 HLA-G 的免疫和临床意义。

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Worldwide genetic variation at the 3' untranslated region of the HLA-G gene: balancing selection influencing genetic diversity.
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