title: Connexin 26 mutation 35delG: prevalence of carriers in various regions in France.
abstract: OBJECTIVE
  Mutation 35delG in the connexin 26 gene is the main cause of recessive deafness in Europe. The prevalence of carriers varies, with a mean value proportion of 1/30 in Mediterranean countries. The aim of this study is to determinate the percentage of carriers in several regions of the Mediterranean coast in France.
  
  
  METHODS
  This study has been carried out on the genomic DNAs out of a total of 1584 healthy subjects, originating from five French towns or regions, genotyped by Taqman assays.
  
  
  RESULTS
  the approximate carrier proportions of the 35delG mutation are 1/50 in Perpignan, 1/65 in Montpellier, 1/66 in Toulon, 1/53 in Grasse. This carrier proportion is 1/31 for the region of Marseilles, a value near the maximal value already obtained in France for Corsica.
authors.affiliation: Center of Molecular Neurogenetics, 44 rue Monge, 75005 Paris, France.
authors.forename: Géraldine
authors.initials: G
authors.lastname: Mercier
authors.forename: Christian
authors.initials: C
authors.lastname: Bathelier
authors.forename: Gérard
authors.initials: G
authors.lastname: Lucotte
mesh_terms: D000328:Adult; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D005602:France / Q000453:epidemiology; D017353:Gene Deletion; D005787:Gene Frequency; D005808:Genes, Recessive; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D015995:Prevalence
chemical_list: D017630:Connexins; D000072259:Connexin 26