Identification of candidate regions for a novel Usher syndrome type II locus

PURPOSE: Chronic diseases affecting the inner ear and the retina cause severe impairments to our communication systems. In more than half of the cases, Usher syndrome (USH) is the origin of these double defects. Patients with USH type II (USH2) have retinitis pigmentosa (RP) that develops during puberty, moderate to severe hearing impairment with downsloping pure-tone audiogram, and normal vestibular function. Four loci and three genes are known for USH2. In this study, we proposed to localize the gene responsible for USH2 in a consanguineous family of Tunisian origin. METHODS: Affected members underwent detailed ocular and audiologic characterization. One Tunisian family with USH2 and 45 healthy controls unrelated to the family were recruited. Two affected and six unaffected family members attended our study. DNA samples of eight family members were genotyped with polymorphic markers. Two-point and multipoint LOD scores were calculated using Genehunter software v2.1. Sequencing was used to investigate candidate genes. RESULTS: Haplotype analysis showed no significant linkage to any known USH gene or locus. A genome-wide screen, using microsatellite markers, was performed, allowing the identification of three homozygous regions in chromosomes 2, 4, and 15. We further confirmed and refined these three regions using microsatellite and single-nucleotide polymorphisms. With recessive mode of inheritance, the highest multipoint LOD score of 1.765 was identified for the candidate regions on chromosomes 4 and 15. The chromosome 15 locus is large (55 Mb), underscoring the limited number of meioses in the consanguineous pedigree. Moreover, the linked, homozygous chromosome 15q alleles, unlike those of the chromosome 2 and 4 loci, are infrequent in the local population. Thus, the data strongly suggest that the novel locus for USH2 is likely to reside on 15q. CONCLUSIONS: Our data provide a basis for the localization and the identification of a novel gene implicated in USH2, most likely localized on 15q

Assessment of anthropogenic inputs in the surface waters of the southern coastal area of Sfax during spring (Tunisia, Southern Mediterranean Sea).

International audienceThe coastal marine area of Sfax (Tunisia), which is well-known for its high productivity and fisheries, is also subjected to anthropogenic inputs from diverse industrial, urban and agriculture activities. We investigated the spatial distribution of physical, chemical and biogeochemical parameters in the surface waters of the southern coastal area of Sfax. Pertinent tracers of anthropogenic inputs were identified. Twenty stations were sampled during March 2013 in the vicinity of the coastal areas reserved for waste discharge. Phosphogypsum wastes dumped close to the beaches were the main source of PO4(3-), Cl(-) and SO4(2-) in seawater. The high content in total polyphenolic compounds was due to the olive oil treatment waste water released from margins. These inorganic and organic inputs in the surface waters were associated with elevated COD. The BOD5/COD (3) ratios highlighted a chemical pollution with organic load of a low biodegradability