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Angiotensin-converting enzyme gene I/D polymorphism in Pakistani systemic lupus erythematosus patients

机译:巴基斯坦系统性红斑狼疮患者的血管紧张素转换酶基因I / D多态性

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Angiotensin-converting enzyme (ACE) was first identified as a key component of the rennin-angiotensin system, as its main role is to process angiotensin I to angiotensin II and degrade bradykinin. Human ACE maps to chromosome 17q23 spans 21Kb, includes 26 exons and 25 introns. In humans, ID, DD, and II polymorphism is located in intron 16 of the angiotensin gene. The purpose of this study is to investigate the frequency of ACE gene insertion/deletion (I/D) polymorphism genotype in systemic lupus erythematosus (SLE) patients and to study the correlation between I/D polymorphism of the ACE gene and clinical manifestations of SLE. Sixty one (61) controls and 61 SLE patients were recruited from Punjab-Pakistan. Sixty one SLE patients and 61 control subjects were studied for ACE I/D polymorphism by using Triple primer method with nested polymerase chain reaction (PCR). The frequency of DD, ID and II genotypes was 54, 3 and 4% in SLE patients’ and 23, 32 and 6% in healthy controls, respectively. The frequency of DD allele in SLE patients with lupus nephritis is 100%, Sjogren’s syndrome 100%, Raynaud’s phenomenon 88.88%, and with rheumatoid arthritis it is 78.94%. The frequency of ID allele in SLE patients with Raynaud’s phenomenon is 5.55%, and with rheumatoid arthritis it is 10.52%. The frequency of II allele in SLE patients with Raynaud’s phenomenon 5.55%, rheumatoid arthritis is 10.52% but the important thing to note is that the frequency of II allele in SLE patients with vasculitis is 100%. This study was undertaken to determine whether DD, ID and II polymorphisms of Intron16 of the ACE gene is associated with SLE and whether the results support such an association. It can be concluded that lupus nephritis, Sjogren’s syndrome, Raynaud’s phenomenon, rheumatoid arthritis and vasculitis, which are common among Pakistani SLE patients, are related diseases and ACE gene is involved in lupus susceptibility.
机译:血管紧张素转换酶(ACE)首先被确定为肾素-血管紧张素系统的关键组成部分,因为其主要作用是将血管紧张素I加工为血管紧张素II并降解缓激肽。人类ACE映射到17q23号染色体,跨度21Kb,包括26个外显子和25个内含子。在人类中,ID,DD和II多态性位于血管紧张素基因的内含子16中。这项研究的目的是调查系统性红斑狼疮(SLE)患者的ACE基因插入/缺失(I / D)多态性基因型的频率,并研究ACE基因的I / D多态性与SLE临床表现之间的相关性。 。从旁遮普邦-巴基斯坦招募了六十一(61)名对照和61名SLE患者。采用三重引物法和巢式聚合酶链反应(PCR)研究了61例SLE患者和61例对照受试者的ACE I / D多态性。 SLE患者的DD,ID和II基因型频率分别为54%,3%和4%,健康对照者分别为23%,32%和6%。 SLE狼疮性肾炎患者的DD等位基因频率为100%,干燥综合征为100%,雷诺现象为88.88%,类风湿关节炎为78.94%。患有雷诺现象的SLE患者的ID等位基因频率为5.55%,类风湿关节炎为10.52%。具有雷诺现象的SLE患者中II等位基因的频率为5.55%,类风湿性关节炎为10.52%,但要注意的是,患有脉管炎的SLE患者中II等位基因的频率为100%。进行这项研究来确定ACE基因Intron16的DD,ID和II多态性是否与SLE有关,以及结果是否支持这种关联。可以得出结论,巴基斯坦SLE患者常见的狼疮性肾炎,干燥综合征,雷诺现象,类风湿性关节炎和血管炎是相关疾病,ACE基因参与了狼疮易感性。

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