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中国汉族和畲族人群中人类CD1a、CD1d和CD1e外显子2的多态性

Polymorphism of human CD1a, CD1d, and CD1e in exon 2 in Chinese Han and She ethnic populations.

作者信息

Gan L-H, Pan Y-Q, Xu D-P, Li M, Lin A, Yan W-H

机构信息

Medical Research Center, Taizhou Hospital of Zhejiang Province, Wenzhou Medical College, Linhai, Zhejiang, People's Republic of China.

出版信息

Tissue Antigens. 2010 Jun;75(6):691-5. doi: 10.1111/j.1399-0039.2010.01443.x. Epub 2010 Feb 1.

DOI:10.1111/j.1399-0039.2010.01443.x
PMID:20136774
Abstract

CD1 molecules are the major histocompatibility complex (MHC)-like glycoproteins specialized in capturing and presenting a variety of glycolipid to antigen-specific T-cells. There are five closely linked CD1 genes termed as CD1a, CD1b, CD1c, CD1d, and CD1e. CD1 gene features limited the polymorphism in exon 2 which encodes for the alpha1 domain. Few investigations on the allele frequencies of the CD1 genes have been reported to date; however, variation of CD1 allele frequency in different ethnics has been observed. In the current study, the CD1a, CD1d, and CD1e gene polymorphisms in exon 2 (alleles 01 and 02) in a group of normal Chinese Han and She individuals were analyzed. Similar allele prevalence was observed between the two populations. The CD1e allele frequency was 37.1% (allele 01); 62.9% (allele 02) and 39.3% (allele 01); 60.7% (allele 02) for Han and She populations, respectively. CD1e was the only polymorphic gene with a genotype frequency for Chinese Han (01/01, 11.0%; 01/02, 52.2%; 02/02, 36.8%) and She (01/01, 13.2%; 01/02, 52.1%; 02/02, 34.7%) individuals, respectively. No CD1a allele 01 and CD1d allele 02 were observed in either population. Our findings indicate that the polymorphism of CD1a, CD1d, and CD1e genes in exon 2 is very limited in the Chinese Han and She ethnics.

摘要

CD1分子是主要组织相容性复合体(MHC)样糖蛋白,专门负责捕获各种糖脂并将其呈递给抗原特异性T细胞。有五个紧密连锁的CD1基因,分别称为CD1a、CD1b、CD1c、CD1d和CD1e。CD1基因的特点是编码α1结构域的外显子2中的多态性有限。迄今为止,关于CD1基因等位基因频率的研究报道较少;然而,已观察到不同种族中CD1等位基因频率的差异。在本研究中,分析了一组中国汉族和畲族正常个体外显子2(等位基因01和02)中的CD1a、CD1d和CD1e基因多态性。两个群体之间观察到相似的等位基因流行率。汉族和畲族人群中CD1e等位基因频率分别为37.1%(等位基因01);62.9%(等位基因02)和39.3%(等位基因01);60.7%(等位基因02)。CD1e是唯一具有多态性的基因,汉族(01/01,11.0%;01/02,52.2%;02/02,36.8%)和畲族(01/01,13.2%;01/02,52.1%;02/02,34.7%)个体的基因型频率分别如此。在两个群体中均未观察到CD1a等位基因01和CD1d等位基因02。我们的研究结果表明,中国汉族和畲族人群中外显子2中CD1a、CD1d和CD1e基因的多态性非常有限。

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