Diversity of the KIR gene cluster in an urban Brazilian population.

Diversity of the KIR gene cluster in an urban Brazilian population.
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DOI:
10.1007/s00251-011-0565-1
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发表时间:
2012-02
期刊:
影响因子:
3.2
通讯作者:
Petzl-Erler, Maria Luiza
Petzl-Erler, Maria Luiza
中科院分区:
医学4区
文献类型:
--
作者:
Augusto, D. G.;Zehnder-Alves, L.;Pincerati, M. R.;Martin, M. P.;Carrington, M.;Petzl-Erler, Maria Luiza

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自然杀伤细胞的活性取决于来自其受体的激活和抑制信号之间的平衡。其中包括识别特定HLA I类同种异型的杀伤细胞免疫球蛋白样受体(KIR)。在这里,我们的特点是KIR的遗传多样性和HLA配体的人口库里蒂巴,巴拉那州(n=164),并将其与其他世界各地的人口。分析2DL 4等位基因的分布。库里蒂巴人口没有显着差异,从欧洲和欧洲后裔人口,但作为一个混合人口表现出较高的遗传多样性。我们发现了27个KIR图谱,其中许多在欧洲人群中不常见,与研究人群中最近的基因流升高一致。KIR基因及其各自的HLA配体的频率独立分布,没有一个分析的个体缺乏功能性KIR-HLA配体组合。全球33个人群的KIR基因频率与地理和种族分布一致,与人口统计学一致,人口统计学是形成所观察到的KIR基因座基因内容多样性的主要因素。
The activity of natural killer cells depends on the balance between activating and inhibitory signals coming from their receptors. Among these are the killer cell immunoglobulin-like receptors (KIR) that recognize specific HLA class I allotypes. Here we characterized KIR genetic diversity and their HLA ligands in the population of Curitiba, Paraná State (n=164), and compared it with other worldwide populations. The distribution of 2DL4 alleles was also analyzed. The Curitiba population did not differ significantly from European and Euro-descendant populations, but as an admixed population showed higher genetic diversity. We found 27 KIR profiles, many of them uncommon in European populations, in agreement with the elevated historically recent gene flow in the study population. The frequencies of KIR genes and their respective HLA ligands were distributed independently and none of the analyzed individuals lacked functional KIR–HLA ligand combinations. KIR gene frequencies of 33 worldwide populations were consistent with geographic and ethnic distribution, in agreement with demography being the major factor shaping the observed gene content diversity of the KIR locus.
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