الفهرس 
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Abstract
Familial Mediterranean fever is an autosomal recessive inherited condition characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. These episodes are often accompanied by fever and sometimes a rash. FMF is divided into two phenotypes, types 1 and 2. FMF type 1 is characterized by recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis and rarely, pericarditis and meningitis, FMF type 2 is characterized by amyloidosis as the first clinical manifestation of disease in an otherwise asymptomatic individual. FMF cannot be cured, but it can be well controlled with life-long use of colchicines. This study was conducted on 44 members of 11 families of children with definite FMF diagnosed clinically and confirmed by FMF gene study for detection of familial Mediterranean fever gene mutations among family members of affected children. So identifying these mutations in presymptomatic family members have a great impact on management, prevention of complications, and prognosis beside important role of genetic counseling Family members were 44 members of 11 families of children with definite FMF diagnosed clinically and confirmed by FMF gene study, 19 members were fathers and mothers of the affected children while 25 members were brothers and sisters.
All family members were subjected to: - Detailed history taking, - Complete general examination, - Laboratory study, molecular study of FMF gene, - Family counseling and data management and statistical analysis In this study we use PCR-RFLP technique for MEFV gene analysis in order to establish a diagnosis of FMF by examining five mutations, M694V, V726A, M694I, M680I, and E148Q.