Gaziosmanpasa University, Faculty of Medicine, Department of Medical Biology, Tokat, Turkey.
Gene. 2012 Sep 10;506(1):43-5. doi: 10.1016/j.gene.2012.06.074. Epub 2012 Jul 3.
Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and inflammation in the peritoneum, synovium, or pleura, accompanied by pain. The disease is associated with mutations in the Mediterranean fever (MEFV) gene, which encodes for the pyrin protein. The aim of this study was to explore the frequency and clinical significance of the R202Q (c.605G>A) polymorphism in exon 2 of the MEFV gene in a cohort of Turkish patients with FMF.
The study included 191 patients with FMF and 150 healthy controls. Genomic DNA was isolated and genotyped using polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) assay for the MEFV gene R202Q polymorphism.
The genotype and allele frequencies of R202Q polymorphism showed a statistically significant difference between FMF patients and controls (p<0.0001 and p=0.0004, respectively) and especially the homozygous AA genotype was significantly higher in FMF patients than healthy controls (p=0.0002; odds ratio=6.27; 95% CI=2.1-18.3). However no significant association was observed between clinical and demographic features of FMF patients and R202Qpolymorphism.
The results of this study showed that there was a high association between MEFV gene R202Q polymorphism and FMF. R202Q polymorphism should be included in routine molecular diagnosis of FMF patients.
家族性地中海热(FMF)是一种常染色体隐性遗传病,其特征为反复发作的发热和炎症,累及腹膜、滑膜或胸膜,并伴有疼痛。该病与地中海热(MEFV)基因突变相关,该基因突变会导致吡嗪蛋白编码异常。本研究旨在探讨 MEFV 基因外显子 2 中的 R202Q(c.605G>A)多态性在土耳其 FMF 患者中的频率及其临床意义。
本研究纳入了 191 例 FMF 患者和 150 例健康对照者。采用聚合酶链反应(PCR)-限制性片段长度多态性(RFLP)分析技术,检测 MEFV 基因 R202Q 多态性的基因型和等位基因频率。
FMF 患者和对照组之间 R202Q 多态性的基因型和等位基因频率存在统计学差异(p<0.0001 和 p=0.0004),尤其是在 FMF 患者中,纯合 AA 基因型的频率明显高于健康对照组(p=0.0002;比值比=6.27;95%可信区间为 2.1-18.3)。然而,FMF 患者的临床和人口统计学特征与 R202Q 多态性之间无显著相关性。
本研究结果表明,MEFV 基因 R202Q 多态性与 FMF 之间存在高度相关性。R202Q 多态性应纳入 FMF 患者的常规分子诊断中。