Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes

Background: Primary distal renal tubular acidosis (dRTA) caused by mutations in the genes that codify for the H+ -ATPase pump subunits is a heterogeneous disease with a poor phenotype-genotype correlation. Up to now, large cohorts of dRTA Tunisian patients have not been analyzed, and molecular defects may differ from those described in other ethnicities. We aim to identify molecular defects present in the ATP6V1B1, ATP6V0A4 and SLC4A1 genes in a Tunisian cohort, according to the following algorithm: first, ATP6V1B1 gene analysis in dRTA patients with sensorineural hearing loss (SNHL) or unknown hearing status. Afterwards, ATP6V0A4 gene study in dRTA patients with normal hearing, and in those without any structural mutation in the ATP6V1B1 gene despite presenting SNHL. Finally, analysis of the SLC4A1 gene in those patients with a negative result for the previous studies. Methods: 25 children (19 boys) with dRTA from 20 families of Tunisian origin were studied. DNAs were extracted by the standard phenol/chloroform method. Molecular analysis was performed by PCR amplification and direct sequencing. Results: In the index cases, ATP6V1B1 gene screening resulted in a mutation detection rate of 81.25%, which increased up to 95% after ATP6V0A4 gene analysis. Three ATP6V1B1 mutations were observed: one frameshift mutation (c.1155dupC; p.Ile386fs), in exon 12; a G to C single nucleotide substitution, on the acceptor splicing site (c.175-1G > C; p.?) in intron 2, and one novel missense mutation (c. 1102G > A; p. Glu368Lys), in exon 11. We also report four mutations in the ATP6V0A4 gene: one single nucleotide deletion in exon 13 (c.1221delG; p. Met408Cysfs* 10); the nonsense c.16C > T; p.Arg6*, in exon 3; and the missense changes c.1739 T > C; p.Met580Thr, in exon 17 and c.2035G > T; p.Asp679Tyr, in exon 19. Conclusion: Molecular diagnosis of ATP6V1B1 and ATP6V0A4 genes was performed in a large Tunisian cohort with dRTA. We identified three different ATP6V1B1 and four different ATP6V0A4 mutations in 25 Tunisian children. One of them, c.1102G > A; p.Glu368Lys in the ATP6V1B1 gene, had not previously been described. Among deaf since childhood patients, 75% had the ATP6V1B1 gene c. 1155dupC mutation in homozygosis. Based on the results, we propose a new diagnostic strategy to facilitate the genetic testing in North Africans with dRTA and SNHL.

Analyse der Beifangreduktion durch Gitternetze in der kommerziellen Garnelenfischerei

Trials for the determination of the magnitude of bycatch reduction by sorting grids used in the commercial brown shrimp fishery were carried out from September to December 1997. Trawls with 9 m beam length were used on different fishing grounds in the estuary of the Elbe River near Cuxhaven. The sorting grids tested were made of stainless steel bars spaced at 18, 20, 22, 26 and 30 mm, built into a cylindrical stainless steel frame with a diameter of 65 cm at an angle of attack of 45 degrees. This frame was positioned between the forenet and codend. Simultaneous hauls were made with a trawl of equal construction but without a sorting grid, and the weighed catch components (fish, discard shrimps and commercial size shrimps) separated by means of a riddle were compared. The composition of the sorted out part of the catch of the sorting grid net could be calculated by comparise the corresponding catch components in both the standard trawl and the sorting grid trawl. According to this the total catch of the beam trawl with the sorting grid is reduced by 18 to 38 % depending on the space between the bars. 7 to 31 % of the sorted out part of the catch consists of fish. The use of the sorting grid, however, also leads to losses of 4 to 12 % in Oktober. Per hour of towing this means a loss of 10,3 % commerical size shrimps with a sorting grid of 18 mm space between the bars and of 12,4 % for a 26 mm grid.