Identification of three genomic haplotypes 5′ to the human CD1D gene and their distribution in four ethnic groups
Identification of three genomic haplotypes 5′ to the human CD1D gene and their distribution in four ethnic groups
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DOI：
10.1034/j.1399-0039.2003.00116.x
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发表时间：
2003-11-01
期刊：
影响因子：
--
通讯作者：
Liu, D
中科院分区：
文献类型：
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作者：
Chen, QY;Jackson, N;Liu, D
CD1d 向保守的自然杀伤 (NK) T 细胞群呈递脂质抗原，这些细胞参与宿主免疫防御、肿瘤细胞排斥和自身免疫抑制。人类 CD1d 表达水平在个体之间存在显着差异。为了理解这种变异，我们对 44 名美国白人的翻译起始位点上游 1.7 kb 5' 区域进行了测序，部分通过外显子 2 进行了测序。我们还研究了该地区 112 名美国白人、60 名非洲裔美国人、88 名欧洲人和 84 名中国人的两个标记单核苷酸多态性 (SNP)。该区域存在的 6 个 SNP（-836C --> T、- 773C --> T、- 764C --> G、- 713A --> T、- 365A --> G 和 +363A --> G）被发现处于完全连锁不平衡状态，并包含三种单倍型。单倍型1具有-836C、-773C、-764C、-713A、-365A和+363A。单倍型2具有-836C、-773T、-764C、-713A、-365A和+363A。单倍型3具有-836T、-773C、-764G、-713T、-365G和+363G。 - 773C --> T 和 - 764C --> G 可以作为标记的 SNP 来区分三种单倍型。单倍型1在非裔美国人中的频率显着高于其他三个族群，而单倍型3在华人中的频率显着高于其他三个族群。这三种单倍型的发现为CD1d提供了遗传标记，并有助于研究遗传变异在人类CD1d表达和调控中的功能作用。
CD1d presents lipid antigen to a conserved population of natural killer (NK) T cells, which participate in host immune defense, tumor cell rejection and suppression of autoimmunity. The levels of human CD1d expression vary significantly between individuals. To understand such variation, we sequenced the region up to 1.7 kb 5' upstream of the translation start site and partially through exon 2 in 44 white Americans. We also studied two tagged single nucleotide polymorphisms ( SNP) in 112 white Americans, 60 African-Americans, 88 Europeans, and 84 Chinese people from the region. Six SNP present in the region (-836C --> T, - 773C --> T, - 764C --> G, - 713A --> T, - 365A --> G and +363A --> G) were found to be in a complete linkage disequilibrium and comprised three haplotypes. Haplotype 1 had - 836C, - 773C, - 764C, - 713A, - 365A and +363A. Haplotype 2 had -836C, - 773T, - 764C, - 713A, - 365A and +363A. Haplotype 3 had - 836T, - 773C, - 764G, - 713T, - 365G and +363G. - 773C --> T and - 764C --> G can serve as the tagged SNP to differentiate the three haplotypes. The frequency of haplotype 1 was significantly higher in African Americans than in the other three ethnic groups, whereas the frequency of haplotype 3 was significantly higher in the Chinese people than those in the other three groups. The finding of the three haplotypes provides a genetic marker for CD1d and facilitates the study of the functional role of the genetic variations in human CD1d expression and regulation.