Olgun Abdullah, Akman Serif, Kurt Ismail, Tuzun Ahmet, Kutluay Turker
Department of Biochemistry and Clinical Biochemistry, Gülhane School of Medicine, Etlik-06018, Ankara, Turkey.
Rheumatol Int. 2005 May;25(4):255-9. doi: 10.1007/s00296-003-0433-x. Epub 2004 Jan 15.
Familial Mediterranean fever (FMF) is an autosomal recessive recurrent polyserositis with a higher prevalence in some ethnic groups, including Turks. Mutations in the FMF gene (MEFV) were found associated with FMF. The aim of this study was to analyze MEFV gene mutations in FMF patients to gain insight into the mutation phenotype correlation.
We analyzed the most frequent mutations (M680I, M694V, V726A, and E148Q) in a group of young male Turkish FMF patients using an amplification refractory mutation system and a commercial kit.
M694V mutation was detected in 80% of the patients. After making a strict diagnostic discrimination between arthralgia and arthritis, arthritis was present in 71% of homozygous and 29.4% of heterozygous patients for M694V mutation. Other mutations were not found to correlate with specific symptoms or findings.
The homozygosity of M694V mutation in the MEFV gene is associated with arthritis in FMF patients.
家族性地中海热（FMF）是一种常染色体隐性复发性多浆膜炎，在包括土耳其人在内的一些种族中患病率较高。已发现FMF基因（MEFV）突变与FMF相关。本研究的目的是分析FMF患者的MEFV基因突变，以深入了解突变与表型的相关性。
我们使用扩增阻滞突变系统和商业试剂盒，分析了一组年轻男性土耳其FMF患者中最常见的突变（M680I、M694V、V726A和E148Q）。
80%的患者检测到M694V突变。在对关节痛和关节炎进行严格的诊断区分后，M694V突变纯合患者中71%存在关节炎，杂合患者中29.4%存在关节炎。未发现其他突变与特定症状或表现相关。
MEFV基因中M694V突变的纯合性与FMF患者的关节炎相关。
