Prevalence of common <Emphasis Type="Italic">MEFV</Emphasis> mutations and carrier frequencies in a large cohort of Iranian populations

Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder caused by mutations in the MEFV gene. The disease is especially common among Armenian, Turkish, Jewish and Middle East Arab populations. To identify the frequency and the spectrum of common MEFV mutations in different Iranian populations, we investigated a cohort of 208 unselected asymptomatic individuals and 743 FMF patients. Nine hundred and fifty-one samples were analysed for the presence of 12 MEFV mutations by PCR and reverse-hybridization (FMF StripAssay, ViennaLab, Vienna, Austria). Confirmatory dideoxy sequencing of all MEFV gene exons was performed for 39 patients. Fifty-seven (27.4%) healthy individual carried mutant MEFV alleles. Three hundred and ninety-one (52.6%) FMF patients were found positive for either one (172/743; 23.1%), two or three MEFV mutations. Using dideoxy sequencing, three novel variants, A66P, R202W and H300Q, could be identified. Our analysis revealed an allele frequency and carrier rate of 15.6 and 27.4%, respectively, among healthy Iranians. Still moderate compared to neighbouring Armenia, but higher than in Turkey or Iraq, these data suggest that FMF is remarkably common among Iranian populations. E148Q was most frequent in the group of healthy individuals, whereas M694V was the most common mutation among FMF patients, thereby corroborating previous studies on MEFV mutational spectra in the Middle East. Accordingly, MEFV mutations are frequent in healthy Iranian individuals across different ethnic groups. Based on this finding, the awareness for FMF and the implementation of augmented carrier screening programmes considering the multiethnic nature of the Iranian population should be promoted.     

Diptera and Coleoptera of potential forensic importance in southeastern Brazil: relative abundance and seasonality

Abstract. To determine the species of Diptera and Coleoptera that visit and breed in carrion, four experiments, one for each season, were conducted from November 1992 to October 1993 in the vicinity of Campinas city, Southeastern Brazil. For each experiment two pigs weighing c. 10 kg were killed with a blow to the head with a blunt metallic object and immediately exposed, one in the shade and the other under sunlight. Adult insects and larvae leaving the carcass to pupate were collected daily. In addition, female blowflies were dissected in order to determine the stage of ovarian development. Five species of Calliphoridae: Chrysomya albiceps, C.megacephala, C.putoria, Phaenicia eximia and Hemilucilia segmentaria; three of Sarcophagidae: Pattonella intermutans, Liopygia ruficornis and Adiscochaeta ingens , and three of beetles: Dermestes maculatus, D. peruvianus (Dermestidae) and Necrobia rufipes (Cleridae), were considered of potential forensic importance, for they were able to breed in carrion exposed to natural environmental conditions. In addition, several fly species showed a definite seasonal pattern, with the Calliphoridae breeding more frequently during the warmer months of the year, and the Sarcophagidae preferring the cooler periods.