objective: familial mediterranean fever (fmf) is an autosomal recessive disorder characterized by recurrent febrile attacks accompanied by serosal and synovial membrane inflammation. fmf is caused by mutations in the mefv gene and are found usually among mediterranean populations, armenians, turks, arabs and jews. the aim of this study was to determine the frequency of mefv gene mutations among...

References 1. The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997;17:25–31. 2. The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997;90:797–807. 3. Cazeneuve C, Sarkisian T, Pecheux C, Dervichian M, Nedelec B, Reinert P, et al. MEFV-gene analysis i...

Glucose-6-phosphate dehydrogenase (G6PD) in humans is in X-linked disorder, housekeeping enzyme and vital for the survival of every cell. It catalyses the oxidation of glucose-6-phosphate to 6-phospho Gluconat in the first committed step of the pentose phosphate pathway, which provides cells with pentoses and reducing power in the form of NADPH. NADPH is required to protect the cells against ox...

mutation has an incidence of 43.5% (4 ), lower than in the rest of Spain (53.2%) (3 ), the incidence of these 11 mutations may be higher. Used in conjunction with the 31 mutations analyzed with the CF Genetic Analysis assay from Applied Biosystems, the multimutational analysis of the 11 mutations presented here could enhance the detection rate in Spanish and Mediterranean populations to 80%.

Familial Mediterranean Fever (FMF) is associated with mutation in the gene coding for pyrin which lead to accentuated innate immune responses involving the IL1 and probably Th1 pathways. We present a teenager who had FMF and Behçet disease and developed secondary amyloidosis. We hypothesized that anti-IL1 treatment would be beneficial for both controlling the disease activity and maintaining re...

Hyperbilirubinemia is the most common problem encountered in terms newborns which is mainly caused by abnormal liver function, hemolysis or genetic defect. Uncongugated bilirubin is produced mainly by the turnover of erythrocytes, after that it is transported by organic anion transporter polypeptide (OATP) to the liver, where uncongugated bilirubin is conjugated by uridine diphosphoglucuronate ...

A common mutation causing thalassemia in Mediterranean populations is an amber (UAG) nonsense mutation at the 39th codon of the human beta-globin gene, the beta-39 mutation. Studies of mRNA metabolism in erythroblasts from patients with beta-39 thalassemia and studies using heterologous transfection systems have suggested the possibility that this mutation not only affects protein synthesis but...