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首页> 外文期刊>International journal of immunogenetics >Analysis of polymorphic sites in the promoter of the nitric oxide synthase 2 gene in Brazilian patients with leprosy
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Analysis of polymorphic sites in the promoter of the nitric oxide synthase 2 gene in Brazilian patients with leprosy

机译:巴西麻风病患者一氧化氮合酶2基因启动子中的多态性位点分析

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Summary: Leprosy is one of the most neglected infectious tropical diseases of the skin and the nerves caused by the intracellular pathogen Mycobacterium leprae. The inducible NOS isoform encoded by NOS2A plays a vital role in host defence against bacterial infections. The functional promoter polymorphisms in NOS2A are associated with various autoimmune and infectious diseases. We investigated the association of NOS2A variants with progression of leprosy in a Brazilian cohort including 221 clinically classified patients and 103 unrelated healthy controls. We observed a novel variant ss528838018A/G in the promoter region at position -6558. The other functional variants were observed with low frequency of minor allele (<0.005). NOS2A promoter variant (-954G/C) was not observed in Brazilian populations, and the new observed promoter variant (ss528838018A/G) as well as other promoter variants were not associated with any clinical forms of leprosy in the Brazilian populations.
机译:简介:麻风病是由细胞内病原体麻风分枝杆菌引起的皮肤和神经最被忽视的热带传染病之一。由NOS2A编码的可诱导型NOS同工型在宿主防御细菌感染中起着至关重要的作用。 NOS2A中的功能启动子多态性与各种自身免疫和感染性疾病有关。我们在一个巴西队列研究了NOS2A变异与麻风病进展的关系,该队列包括221名经过临床分类的患者和103名不相关的健康对照。我们在-6558位启动子区域观察到一个新的变体ss528838018A / G。观察到其他功能变异的次要等位基因频率较低(<0.005)。在巴西人群中未观察到NOS2A启动子变体(-954G / C),在巴西人群中未观察到新的启动子变体(ss528838018A / G)和其他启动子变体与麻风病的任何临床形式相关。

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