Dursun Ahmet, Durakbasi-Dursun Hatice Gul, Zamani Ayse Gul, Gulbahar Zerrin Gülin, Dursun Recep, Yakicier Cengiz
Department of Medical Genetics, Faculty of Medicine, Zonguldak Karaelmas University, 67600 Zonguldak, Turkey.
Mediators Inflamm. 2006;2006(3):41783. doi: 10.1155/MI/2006/41783.
Behçet's disease (BD) is a systemic vasculitis with recurrent oral and genital ulcers and uveitis. MEFV gene, which is the main factor in familial Mediterranean fever (FMF), is also reported to be a susceptibility gene for BD. The pyrin domain of MEFV gene is a member of death-domain superfamily and has been proposed to regulate inflammatory signaling in myeloid cells. This study was designed to determine if mutations in pyrin domain of MEFV gene are involved in BD.
We analyzed the pyrin domain of MEFV gene in 54 Turkish patients with BD by PCR-analysis and direct sequencing.
Neither deletion or insertion mutations nor point mutations in pyrin domain were found in any patient.
Although pyrin gene mutations have been reported in patients with BD, pyrin domain is not mutated. However, alterations in other regions of MEFV gene and interaction between pyrin domains are needed to be further investigated.
白塞病（BD）是一种伴有复发性口腔和生殖器溃疡以及葡萄膜炎的系统性血管炎。MEFV基因是家族性地中海热（FMF）的主要因素，据报道它也是BD的易感基因。MEFV基因的pyrin结构域是死亡结构域超家族的成员，并且已被提出可调节髓样细胞中的炎症信号传导。本研究旨在确定MEFV基因的pyrin结构域中的突变是否与BD有关。
我们通过PCR分析和直接测序，对54例土耳其BD患者的MEFV基因的pyrin结构域进行了分析。
在任何患者中均未发现pyrin结构域的缺失或插入突变以及点突变。
尽管已报道BD患者存在pyrin基因突变，但pyrin结构域未发生突变。然而，MEFV基因其他区域的改变以及pyrin结构域之间的相互作用需要进一步研究。
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