الفهرس 
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Abstract
Familial Mediterranean is a genetic health problem inherited through recessive autosomal transmission. It may cause serious long-term morbidity and mortality. The purpose of this study is to conduct a comprehensive analysis of MEFV gene mutations in a large Egyptian patient group suspected of having FMF disease.
Subjects & Methods
The study included 2056 patients were tested for the 13 most prevalent types of MEFV mutations found in the basin of the Mediterranean using real-time PCR.
Results
Our results showed that fever was reported as the most prevalent clinical feature (94.5%), followed by abdominal pain (90.0%) and arthritis (59.4%). Only 1017 patients (49.5%) had positive MEFV gene mutations (755 males and 263 females), while 1039 patients (50.5%) showed negative mutations for the 13 most prevalent types of MEFV gene mutations in Egypt.
Conclusion
Our recommendation is that the inclusion of F479L mutation analysis in the standard molecular diagnosis of patients with familial Mediterranean fever (FMF) should not be pursued. Screening of the most common MEFV gene mutations in Egypt showed that it is not a sufficient confirmatory test for the process of identifying and determining the presence of Familial Mediterranean Fever in suspected patients and sequencing the entire MEFV gene is recommended. Most positive patients for the MEFV prevalent mutations were heterozygous.