Connexin 26 mutation 35delG: prevalence of carriers in various regions in France.
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.
Mercier
Géraldine
G
Center of Molecular Neurogenetics, 44 rue Monge, 75005 Paris, France.
Bathelier
Christian
C
Lucotte
Gérard
G
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
D017630:Connexins; D000072259:Connexin 26