Ailevi Akdeniz ateşi hastalığı taşıyan bireylerde MEFV geninde R202Q gen değişiminin taranması
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Date
2009
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Biyoteknoloji Enstitüsü
Abstract
Familial Mediterranean Fever (FMF) is an autosomal recessive genetic disordercharacterised by recurrent acute self-limited episodes of fever and serosal inflammationmanifested by sterile peritonitis, pleuritis and synovitis. FMF mainly affects populationsaround the eastern Mediterranean origin, especially Sephardic Jews, Armenians, Turks andArabs. The most serious complication of FMF is the development of amyloidosis.The gene causing FMF, MEFV, is located on the short arm of chromosome 16. MEFVgene encodes a protein named Pyrin/Marenostrin. It has been thought that pyrin acts as anegative regulator of the inflammatory response. Mutations in the MEFV gene have beenidentified in the majority of FMF patients. The M694V mutation in exon 10 is the mostcommon among Turkish FMF patients.After amplification of exon 2 region with polimerase chain reaction (PCR), we analyseR202Q at exon 2 with PvuII restriction endonuclease enzyme digestion method.R202Q polymorphism is located in cis position with M694V mutation. In case of R202Qexistinced at exon 2, It was observed that there is one more haplotype which is not inlinkage with M694V mutation. Our study revealed that there is another haplotype ofcarrying R202Q in trans with M694V mutation. This indicates that R202Q alteration mightbe a disease-causing mutation. When combined with other disease-causing mutation, theclinical spectrum appears. This emphasizes that R202Q alteration is important fordiagnosis.Our results show that R202Q gene alteration should be included in routine FMF geneanalysis.
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Akdeniz ateşi hastalığı, Gen