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Title: Mutation spectrum of Gaucher disease in Tunisia: high frequency of N370S/Rec NciI compound heterozygous
Author: Cherif, W.
Ben Turkia, H.
Tebib, N.
Amaral, O.
Ben Rhouma, F.
Abdelmoula MS, M.S.
Azzouz, H.
Caillaud, C.
Sà Miranda, M.C.
Abdelhak, S.
Ben Dridi, M.F.
Keywords: Genética Humana
Doenças Genéticas
Gaucher Disease
Mutation Screening
Lysosomal Storage Disorders
Issue Date: 2007
Publisher: Institut Pasteur de Tunis
Citation: Arch Inst Pasteur Tunis. 2007;84(1-4):65-70
Abstract: Gaucher disease is the most common lysosomal storage disorder, it results from the inherited deficiency of the enzyme glucocerebrosidase, the accumulation of its substrate causes many clinical manifestations. Since the discovery of GBA gene, more than 200 different mutations have been identified, but only handful mutations are recurrent (N370S, L444P and c.84insG). In order to determine the mutation spectrum in Tunisia, we performed recurrent mutation screening in ten unrelated Tunisian children with Gaucher disease. Screening of recurrent mutation by PCR/RFLP and direct sequencing, has shown that N370S is the most frequent mutation (6/20 mutant alleles, 30%), followed by recombinant allele (RecNciI) which is found in five patients (5/20 mutant alleles, 25%), the L444P mutation represent 20% (4/20 mutant alleles). Our findings revealed that five among ten studied patients, were compound heterozygous N370S/RecNciI (50%). The screening of these mutations provides a simple tool for molecular diagnosis of Gaucher disease in Tunisian patients and allows also genetic counselling for their family members.
Description: European Neighbourhood Policy covering the Mediterranean Partner Countries
Peer review: yes
ISSN: 0020-2509
Appears in Collections:DGH - Artigos em revistas internacionais

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