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Connexin 26 mutation 35delG: Prevalence of carriers in various regions in France

2005; Elsevier BV; Volume: 69; Issue: 9 Linguagem: Inglês

10.1016/j.ijporl.2005.03.009

1872-8464

Géraldine Mercier, C. Bathelier, G Lucotte,

Hearing Loss and Rehabilitation

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. 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. 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.