title: PCR test for diagnosis of the common GJB2 (connexin 26) 35delG mutation on dried blood spots and determination of the carrier frequency in France.
abstract: Mutations in the gene encoding connexin 26 (Cx26) have been shown to be a major cause of non-syndromic recessive deafness (NSRD), and a single mutation 35delG in the Cx26 gene accounts for the majority of NSRD in different European populations. To screen for this mutation we developed an easier and more reliable method based on the principle of PCR mutation-specific primers. We tested 512 French neonates using dried blood spots for heterozygosity of the 35delG mutation and found a carrier frequency of 2.73%. As our test detects a mutation responsible for a significant part of NSRD, it may find widespread use in DNA diagnostics.
authors.affiliation: LCL Laboratory, 78 avenue de Verdun, 94200, Ivry-sur-Seine, France.
authors.forename: G
authors.initials: G
authors.lastname: Lucotte
authors.forename: C
authors.initials: C
authors.lastname: Bathelier
authors.forename: T
authors.initials: T
authors.lastname: Champenois
mesh_terms: D001769:Blood / Q000378:metabolism*; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004587:Electrophoresis, Agar Gel; D005060:Europe; D005602:France; D017353:Gene Deletion; D005820:Genetic Testing / Q000191:economics / Q000379:methods; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26