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突尼斯人群中的杀伤细胞免疫球蛋白样受体(KIR)基因座谱。

Killer cell immunoglobulin-like receptor (KIR) locus profiles in the Tunisian population.

作者信息

Meriem Bani, Jihen Seket, Houda Kaabi, Ghaya Cherif, Manel Chaabane, Hedi Bellali, Slama Hmida

机构信息

Immunogenetic Applied to Cell Therapy Research Unit, Immunohematology and HLA-typing Department, National Blood Transfusion Center of Tunis, Tunisia.

Immunogenetic Applied to Cell Therapy Research Unit, Immunohematology and HLA-typing Department, National Blood Transfusion Center of Tunis, Tunisia.

出版信息

Hum Immunol. 2015 May;76(5):355-61. doi: 10.1016/j.humimm.2015.03.002. Epub 2015 Mar 19.

DOI:10.1016/j.humimm.2015.03.002
PMID:25797201
Abstract

Killer cell immunoglobulin-like receptors (KIRs) are a family of inhibitory and activatory receptors that are expressed by most natural killer (NK) cells. The KIR gene family is polymorphic: genomic diversity is achieved through differences in gene content and allelic polymorphism. The number of KIR loci has been reported to vary among individuals, resulting in different KIR haplotypes. In this study we report the genotypic structure of KIRs in 267 unrelated and healthy Tunisian subjects by polymerase chain reaction-sequence-specific primer (PCR-SSP) method. All 16 KIR genes were observed in the population with different frequencies; framework genes KIR3DP1 and KIR3DL2 and the nonframework genes KIR2DL1 and KIR2DP1 were present in all individuals. A total of 26 different KIR gene profiles and 54 subgenotypes were observed in the tested population samples. Genotype 1, with a frequency of 36.6%, is the most commonly observed in the Tunisian population. Our results showed that the Tunisian population possesses the previously reported general features of the Caucasian as well as African populations, with some additional interesting differences. Such knowledge of the KIR gene distribution in populations is very useful in the study of associations with diseases and in selection of donors for haploidentical bone marrow transplantation.

摘要

杀伤细胞免疫球蛋白样受体(KIRs)是一类抑制性和激活性受体,大多数自然杀伤(NK)细胞均可表达。KIR基因家族具有多态性:通过基因含量差异和等位基因多态性实现基因组多样性。据报道,KIR基因座的数量在个体间存在差异,从而导致不同的KIR单倍型。在本研究中,我们采用聚合酶链反应-序列特异性引物(PCR-SSP)方法,报告了267名无亲缘关系的健康突尼斯受试者中KIRs的基因型结构。在该人群中观察到所有16个KIR基因,其频率各不相同;框架基因KIR3DP1和KIR3DL2以及非框架基因KIR2DL1和KIR2DP1在所有个体中均有出现。在测试的人群样本中总共观察到26种不同的KIR基因谱和54种亚基因型。基因型1的频率为36.6%,是突尼斯人群中最常见的基因型。我们的结果表明,突尼斯人群具有先前报道的高加索人群和非洲人群的一般特征,同时也存在一些其他有趣的差异。了解人群中KIR基因的分布情况对于研究疾病关联以及选择单倍型相合骨髓移植的供体非常有用。

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