泰国人群中多态性RAET1基因的连锁不平衡
Linkage disequilibrium of polymorphic RAET1 genes in Thais.
作者信息
Rareongjai S, Romphruk A, Romphruk A V, Sakuntabhai A, Leelayuwat C
机构信息
Biomedical Sciences Program, Graduate School, Khon Kaen University, Khon Kaen, Thailand.
出版信息
Tissue Antigens. 2010 Sep;76(3):230-5. doi: 10.1111/j.1399-0039.2010.01502.x.
Retinoic acid early transcripts-1 (RAET1) or unique long 16 (UL-16) binding proteins (ULBPs) is a gene cluster encoding for molecules acting as ligands to natural killer group 2 D (NKG2D), a receptor expressed on immune cells. Binding of these ligands to the receptor activates immune cells leading to killing of tumor cells and also viral-infected cells. The information on polymorphism of RAET1 is limited. In this report, we analyze the linkages between four polymorphic RAET1 genes: RAET1E, RAET1G, RAET1H and RAET1L, in 318 unrelated Thais. The strongest linkage disequilibrium was found between RAET1E and RAET1G, with P-value, D' and r(2) of <5.0 x 10(-5), 0.707 and 0.840, respectively. RAET1E()001 was found to be in linkage disequilibrium with RAET1G()002, and RAET1E()002 with RAET1G()001. Evidently, there were possible RAET1 haplotypes with haplotype frequencies of more than 10% consisting of RAET1E()001; RAET1G()002; RAET1H()001; RAET1L()001 and RAET1E()002; RAET1G()001; RAET1H()002; RAET1L()003. This study provides basic information on polymorphisms of RAET1 and possible RAET1 haplotypes in Thais.
维甲酸早期转录物-1（RAET1）或独特长链16（UL-16）结合蛋白（ULBPs）是一个基因簇，编码作为自然杀伤细胞2D（NKG2D）配体的分子，NKG2D是一种在免疫细胞上表达的受体。这些配体与该受体的结合会激活免疫细胞，从而导致肿瘤细胞和病毒感染细胞的杀伤。关于RAET1多态性的信息有限。在本报告中，我们分析了318名无亲缘关系的泰国人中四个多态性RAET1基因（RAET1E、RAET1G、RAET1H和RAET1L）之间的连锁关系。在RAET1E和RAET1G之间发现了最强的连锁不平衡，P值、D'和r(2)分别为<5.0×10(-5)、0.707和0.840。发现RAET1E()001与RAET1G()002处于连锁不平衡状态，RAET1E()002与RAET1G()001处于连锁不平衡状态。显然，存在可能的RAET1单倍型，其单倍型频率超过10%，包括RAET1E()001；RAET1G()002；RAET1H()001；RAET1L()001和RAET1E()002；RAET1G()001；RAET1H()002；RAET1L()003。本研究提供了泰国人RAET1多态性和可能的RAET1单倍型的基础信息。
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