Article
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F.
European journal of medical genetics - 1 Jan 2000
Ammar-Khodja Fatima, Faugère Valérie, Baux David, Giannesini Claire, Léonard Susana, Makrelouf Mohamed, Malek Rahia, Djennaoui Djamel, Zenati Akila, Claustres Mireille, Roux Anne-Françoise
Abstract excerpt
A systematic approach, involving haplotyping and genotyping, to the molecular diagnosis of non-syndromic deafness within 50 families and 9 sporadic cases from Algeria is described. Mutations at the DFNB1 locus (encompassing the GJB2 and GJB6 genes) are responsible for more than half of autosomal recessive prelingual non-syndromic deafness in various populations. A c.35delG mutation can account for up to 85% of...
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