title: Mutations of GJB2 in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates.
abstract: Geographically isolated populations have been successfully used to localize genes for recessive inherited diseases, including non-syndromic sensorineural recessive deafness (NSRD). To date, 25 loci for NSRD have been localized on human chromosomes (DFNB loci), and six of the corresponding genes have been identified. Here, we report on the contribution of the DFNB1 locus (GJB2 gene) to NRSD in seven affected families living in three northern Tunisian geographic isolates, and we provide evidence for genetic heterogeneity within isolates. This finding challenges the classical view of a single 'founder' mutation segregating in such isolates.
authors.affiliation: Unité d'Epidémiologie Génétique, Faculté de Médecine, Tunisia.
authors.forename: S
authors.initials: S
authors.lastname: Ben Arab
authors.forename: M
authors.initials: M
authors.lastname: Hmani
authors.forename: F
authors.initials: F
authors.lastname: Denoyelle
authors.forename: A
authors.initials: A
authors.lastname: Boulila-Elgaied
authors.forename: S
authors.initials: S
authors.lastname: Chardenoux
authors.forename: S
authors.initials: S
authors.lastname: Hachicha
authors.forename: C
authors.initials: C
authors.lastname: Petit
authors.forename: H
authors.initials: H
authors.lastname: Ayadi
mesh_terms: D000483:Alleles; D002874:Chromosome Mapping; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D014644:Genetic Variation; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D014416:Tunisia
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26