title: A simple and reliable method for the detection of the 30delG mutation of the CX26 gene.
abstract: Mutations in the CX26 gene (GJB2), encoding the gap-junction protein Connexin-26, have been shown to be the major cause of non-syndromic recessive deafness. Among these mutations, the deletion of a guanine within the stretch of six G between nucleotide positions +30 and +35 of the CX26 cDNA (30delG) accounts for the majority of this kind of deafness. Molecular detection of the 30delG mutation is usually performed by direct sequencing analysis of PCR products or by SSCP. To detect this mutation we developed an easy and reliable method, based on PCR, followed by a non-radioactive sandwich hybridization on microtiter plates. We tested 188 individuals recruited from the genetic counseling service for deaf people at the Pasteur Hospital and at the Armand-Trousseau Children's Hospital, Paris, France between April 1997 and September 1998. Our screening method is simple, uses stable and safe reagents, and employs inexpensive equipment. As such, it is suitable for widespread use in genetic diagnosis.
authors.affiliation: Laboratoire de Prédéveloppement des Sondes, Institut Pasteur, Paris, France.
authors.forename: I
authors.initials: I
authors.lastname: Casademont
authors.forename: D
authors.initials: D
authors.lastname: Chevrier
authors.forename: F
authors.initials: F
authors.lastname: Denoyelle
authors.forename: C
authors.initials: C
authors.lastname: Petit
authors.forename: J L
authors.initials: JL
authors.lastname: Guesdon
mesh_terms: D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000191:economics / Q000379:methods*; D003638:Deafness / Q000175:diagnosis* / Q000235:genetics*; D005808:Genes, Recessive; D005820:Genetic Testing / Q000191:economics / Q000379:methods*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D015336:Molecular Probe Techniques; D009693:Nucleic Acid Hybridization / Q000379:methods; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D017384:Sequence Deletion / Q000235:genetics*; D016037:Single-Blind Method
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D015345:Oligonucleotide Probes; D000072259:Connexin 26