Diagnostic moléculaire de la maladie de Gaucher en Tunisie

Abstract : Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid β-glucosidase. In order to determine the mutation spectrum in Tunisia, we performed recurrent mutation screening in 30 Tunisian patients with Gaucher disease. Screening of recurrent mutation by PCR/RFLP and direct sequencing had shown that N370S was the most frequent mutation (22/50 mutant alleles, 44%), followed by L444P mutation, which is found in 16% (8/50 mutant alleles). The recombinant allele (RecNciI) represented 14%. Our findings revealed that the genotype N370S/RecNciI was mosst frequent in patients with childhood onset and it was associated with severe visceral involvement. The screening of these three mutations provided a simple tool for molecular diagnosis of Gaucher disease in Tunisian patients and allowed also genetic counselling for their family members.
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Submitted on : Tuesday, September 18, 2012 - 10:59:50 AM
Last modification on : Saturday, October 26, 2019 - 1:38:48 AM

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W. Cherif, H. Ben Turkia, F. Ben Rhouma, I. Riahi, J. Chemli, et al.. Diagnostic moléculaire de la maladie de Gaucher en Tunisie. Pathologie Biologie, Elsevier Masson, 2012, 61 (2), pp.59-63. ⟨10.1016/j.patbio.2012.03.006⟩. ⟨pasteur-00733195⟩

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