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KIR2DL4基因多态性的阐明。

The elucidation of KIR2DL4 gene polymorphism.

作者信息

Schellekens Jennifer, Tilanus Marcel G J, Rozemuller Erik H

机构信息

Department of Pathology, University Medical Centre Utrecht, Utrecht, The Netherlands.

出版信息

Mol Immunol. 2008 Apr;45(7):1900-6. doi: 10.1016/j.molimm.2007.10.038. Epub 2007 Dec 21.

Abstract

The killer cell immunoglobulin-like receptors (KIRs) on NK cells recognize defined groups of HLA class I alleles. By this mechanism the NK cells fulfil a significant role in the first line of defense against infectious agents and cancer. For the treatment of leukaemia this NK cell allorecognition is of great importance. Still, an appropriate effect against the leukaemic cells requires sufficient expression of both KIR and HLA proteins. KIR gene polymorphism influence membrane expression of the KIR protein. We addressed KIR2DL4 gene polymorphism by a newly developed DNA and cDNA based direct sequencing based typing (SBT) and cloning approach. A panel of 44 individuals revealed a variety of KIR2DL4 alleles. Three new alleles have been identified, among those one allele showed alternatively spliced products. In conclusion, this approach is applicable for routine KIR2DL4 allele typing and enables the characterisation of new KIR2DL4 alleles.

摘要

自然杀伤细胞(NK细胞)上的杀伤细胞免疫球蛋白样受体(KIR)可识别特定组别的HLA I类等位基因。通过这种机制,NK细胞在抵御感染因子和癌症的第一道防线中发挥着重要作用。对于白血病的治疗而言,这种NK细胞同种异体识别非常重要。然而,要对白血病细胞产生适当的作用,需要KIR和HLA蛋白都有足够的表达。KIR基因多态性会影响KIR蛋白的膜表达。我们通过一种新开发的基于DNA和cDNA的直接测序分型(SBT)和克隆方法研究了KIR2DL4基因多态性。一组44名个体显示出多种KIR2DL4等位基因。已鉴定出三个新等位基因,其中一个等位基因显示出可变剪接产物。总之,这种方法适用于常规的KIR2DL4等位基因分型,并能够鉴定新的KIR2DL4等位基因。

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