杀伤细胞免疫球蛋白样受体基因座多态性：基因分型与疾病关联分析
KIR locus polymorphisms: genotyping and disease association analysis.
作者信息
Martin Maureen P, Carrington Mary
机构信息
Laboratory of Genomic Diversity, SAIC-Frederick, Inc., NCI-Frederick, Frederick, MD, USA.
出版信息
Methods Mol Biol. 2008;415:49-64. doi: 10.1007/978-1-59745-570-1_3.
Abstract
The genes encoding the killer immunoglobulin-like receptors (KIR) are situated within a segment of DNA that has undergone expansion and contraction over time due in large part to unequal crossing over. Consequently, individuals exhibit considerable haplotypic variation in terms of gene content. The highly polymorphic human leukocyte antigen (HLA) class I loci encode ligands for the KIR; thus, it is not surprising that KIR genes also show significant allelic polymorphism. As a result of the receptor-ligand relationship between KIR and HLA, functionally relevant KIR-HLA combinations need to be considered in the analysis of these genes as they relate to disease outcomes. This chapter will describe a genotyping method for identifying the presence/absence of the KIR genes and general approaches to data analysis in disease association studies.
摘要
编码杀伤细胞免疫球蛋白样受体（KIR）的基因位于一段DNA片段中，该片段由于大部分是不等交换而随时间经历了扩增和收缩。因此，个体在基因含量方面表现出相当大的单倍型变异。高度多态的人类白细胞抗原（HLA）I类基因座编码KIR的配体；因此，KIR基因也显示出显著的等位基因多态性也就不足为奇了。由于KIR和HLA之间的受体-配体关系，在分析这些与疾病结局相关的基因时，需要考虑功能相关的KIR-HLA组合。本章将描述一种用于鉴定KIR基因存在与否的基因分型方法以及疾病关联研究中的数据分析一般方法。
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The silent KIR3DP1 gene (CD158c) is transcribed and might encode a secreted receptor in a minority of humans, in whom the KIR3DP1, KIR2DL4 and KIR3DL1/KIR3DS1 genes are duplicated.沉默的KIR3DP1基因（CD158c）可被转录，在少数人中可能编码一种分泌型受体，这些人体内KIR3DP1、KIR2DL4和KIR3DL1/KIR3DS1基因存在重复。
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Combinations of maternal KIR and fetal HLA-C genes influence the risk of preeclampsia and reproductive success.母体杀伤细胞免疫球蛋白样受体（KIR）基因与胎儿人类白细胞抗原C（HLA-C）基因的组合会影响先兆子痫的风险和生殖成功率。
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Cutting edge: heterozygote advantage in autoimmune disease: hierarchy of protection/susceptibility conferred by HLA and killer Ig-like receptor combinations in psoriatic arthritis.前沿：自身免疫性疾病中的杂合子优势：银屑病关节炎中 HLA 与杀伤细胞免疫球蛋白样受体组合赋予的保护/易感性等级
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