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Killer Cell Immunoglobulin-like Receptor Genotypes in Behcet's Disease Patients: Any Role for the 3DP1*001/002 Pseudogene?

机译:白塞病患者中的杀伤细胞免疫球蛋白样受体基因型:3DP1 * 001/002假基因有何作用?

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摘要

Aims: Genotypic profiles of the natural killer cell immunoglobulin-like receptors (KIR) have been reported to vary among different ethnic groups and variable clinical entities. This study represents the second report on its distribution among patients with Behcet's disease (BD). We studied 43 unrelated Lebanese Behcet's patients, had their DNA typed using sequence-specific primer technique for the presence of 16 KIR genes and pseudogenes loci, and compared them to the general Lebanese population. Results: In addition to sharing common features with the general population, the AA genotype was still the most frequent-however, with five new KIR profiles identified. There was no statistically significant distribution of the different KIR genes between the cases (BD patients) and controls (Lebanese population); however, KIR3DP1 *001 /002 was found to be significantly different between the BD patients and the Lebanese population, but this significance was lost after correction for all KIR loci. Conclusion: The results lead to an interesting future research question of whether or not KIR genotype is involved in the predisposition to or pathogenesis of BD especially that a pseudogene is controversially in question. This is the second report that describes the KIR genotypic profile in such an important clinical disease but the first to shed a light on the possible role of a pseudogene.
机译:目的:据报道,自然杀伤细胞免疫球蛋白样受体(KIR)的基因型分布在不同种族和不同临床实体之间有所不同。这项研究代表了第二份关于白塞病(BD)患者分布的报告。我们研究了43名无关的黎巴嫩Behcet病人,使用序列特异性引物技术对他们的DNA进行了分型,确定了16个KIR基因和假基因位点的存在,并将其与黎巴嫩一般人群进行了比较。结果:除了与普通人群具有共同特征外,AA基因型仍然是最常见的基因型,已鉴定出五个新的KIR图谱。在病例(BD患者)和对照(黎巴嫩人群)之间,不同的KIR基因没有统计学上的显着分布。然而,发现BD患者与黎巴嫩人群之间的KIR3DP1 * 001/002有显着差异,但是在校正所有KIR基因座后,这一重要性消失了。结论:研究结果引起了一个有趣的未来研究问题,即KIR基因型是否与BD的易感性或发病机制有关,特别是假基因存在争议。这是第二份描述这种重要临床疾病中KIR基因型概况的报告,但第一份报告揭示了假基因的可能作用。

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  • 来源
    《Genetic Testing》 |2009年第3期|319-324|共6页
  • 作者单位

    Departments of Internal Medicine, American University of Beirut Medical Center (AUBMC), Beirut, Lebanon;

    Departments of Biology Laboratory Medicine, American University of Beirut Medical Center (AUBMC), Beirut, Lebanon;

    Departments of Internal Medicine, American University of Beirut Medical Center (AUBMC), Beirut, Lebanon;

    Departments of Pathology and Laboratory Medicine, American University of Beirut Medical Center (AUBMC), Beirut, Lebanon;

    Departments of Internal Medicine, American University of Beirut Medical Center (AUBMC), Beirut, Lebanon;

    Departments of Pathology and Laboratory Medicine, American University of Beirut Medical Center (AUBMC), Beirut, Lebanon;

    Departments of Pathology and Laboratory Medicine, American University of Beirut Medical Center (AUBMC), Beirut, Lebanon;

    Departments of Pathology and Laboratory Medicine, American University of Beirut Medical Center (AUBMC), Beirut, Lebanon;

    Departments of Pathology and Laboratory Medicine, American University of Beirut Medical Center (AUBMC), Beirut, Lebanon;

  • 收录信息 美国《科学引文索引》(SCI);美国《化学文摘》(CA);
  • 原文格式 PDF
  • 正文语种 eng
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  • 入库时间 2022-08-17 13:21:27

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