title: Frequency of the 35delG allele causing nonsyndromic recessive deafness in the Algerian patients.
abstract: Deafness is a heterogeneous disorder showing different patterns of inheritance and involving a multitude of different genes. Mutations in the GJB2 gene encoding connexin 26 (Cx26) protein are a major cause for non-syndromic autosomal recessive and sporadic deafness. Among these mutations, the c.35delG deletion is the most common mutation for sensorineural deafness. One hundred sixteen persons from fifty-eight families were tested by the method based on the principle of PCR-mediated-site-directed mutagenesis (PSDM), followed by a Bsl1 digestion. Mutation c.35delG was diagnosed in sixteen families (11 homozygotes and 5 heterozygotes). The low allelic frequency (17.24%) and low ratio of individuals homozygous (13.8%) and heterozygous (6.9%) for the c.35delG mutation suggest that there are other mutations in the GJB2 gene or other genes responsible for deafness in the Algerian population. This study reports a significant association (P=0.003) between first cousin consanguinity and non-syndromic prelingual deafness.
authors.affiliation: Department of Molecular and Cell Biology, Biological Faculty of Sciences, University of USTHB, El Alia, Bab-Ezzouar, Algiers, Algeria. amarkhodjadz@yahoo.fr
authors.forename: F
authors.initials: F
authors.lastname: Ammar-Khodja
authors.forename: M
authors.initials: M
authors.lastname: Makrelouf
authors.forename: R
authors.initials: R
authors.lastname: Malek
authors.forename: H
authors.initials: H
authors.lastname: Ibrahim
authors.forename: A
authors.initials: A
authors.lastname: Zenati
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000462:Algeria; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003241:Consanguinity; D003638:Deafness / Q000208:ethnology* / Q000235:genetics*; D005260:Female; D000080865:Formins; D005787:Gene Frequency; D005808:Genes, Recessive / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D017630:Connexins; C108962:DIAPH1 protein, human; D000080865:Formins; C000607042:GJB2 protein, human; D000072259:Connexin 26