A solid-phase radioimmunoassay for human glucose-6-phosphate dehydrogenase (D-glucose-6-phosphate: NADP+ 1-oxidoreductase; EC 1.1.1.49) was developed that allowed the specific activity of this enzyme protein to be measured in lysates from whole erythrocyte populations, in lysates from erythrocytes of different ages, and in purified samples. The enzyme was highly purified from erythrocytes of si...

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an enzymopathy affecting about 400 millionpeople worldwide. The distribution of G6PD deficiency and the molecular genetics of this enzyme vary widelyamong different ethnic groups. The aim of this study was to find out the frequency of G6PD deficiency andcharacterize the Mediterranean type mutation in deficient individuals ...

BACKGROUND Melanoma risk factors include fair pigmentation, multiple nevi, low DNA repair capacity, and CDKN2A or CDK4 mutations. Variants of the melanocortin-1 receptor (MC1R) gene have been associated with fair pigmentation and melanoma risk, and a polymorphism of the Agouti Signaling Protein (ASIP) gene has been associated with dark pigmentation. We examined MC1R and ASIP genotypes in relati...

glucose-6-phosphate dehydrogenase (g6pd) enzyme catalyses the first step in pentose phosphate pathway (conversion of glucose-6-phosphat to 6-phospho gluconat) which provides cells with pentoses and reduction power in the form of nadph. in the present study we have analyzed the g6pd gene mutations in 76 patients with a history of favism in khorasan province in iran. dna samples were analyzed for...

β-Thalassemias and abnormal hemoglobin variants are among the most common hereditary abnormalities in humans. Molecular characterization of the causative genetic variants is an essential part of the diagnostic process. In geographic areas with high hemoglobinopathy prevalence, such as the Mediterranean region, a limited number of genetic variants are responsible for the majority of hemoglobinop...

SCOPE Despite the solid connection between REV-ERB and obesity, the information about whether genetic variations at this locus may be associated with obesity traits is scarce. Therefore our objective was to study the association between REV-ERB-ALPHA1 rs2314339 and obesity in two independent populations. METHODS AND RESULTS Participants were 2214 subjects from Spanish Mediterranean (n = 1404)...

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n engl j med 372;20 nejm.org may 14, 2015 1972 1. Cohen PR. Sweet’s syndrome — a comprehensive review of an acute febrile neutrophilic dermatosis. Orphanet J Rare Dis 2007;2:34. 2. Kroshinsky D, Alloo A, Rothschild B, et al. Necrotizing Sweet syndrome: a new variant of neutrophilic dermatosis mim­ icking necrotizing fasciitis. J Am Acad Dermatol 2012;67:945­54. 3. Livneh A, Langevitz P, Zemer D...

Thalassemia is a congenital hemolytic anemia prevalent in Asian and Mediterranean races. The homozygous state results in thalassemia major or Cooley's anemia, and such patients are transfusion-dependent. A less severe syndrome, thalassemia intermedia, may be due to compound heterozygosity for /3-thalassemia and /3 variant (e.g., hemoglobin E [HbE]) genes and is characterized by anemia, jaundice...