title: Evaluation of dHPLC for CX26 mutation screening in patients from southern France with sensorineural deafness.
abstract: The GJB2 gene (or CX26 for connexin 26) is one of the major genes causing nonsyndromic sensorineural hearing loss (NSSNHL). More than 50 sequence variations have been identified as polymorphisms or associated with autosomal or recessive forms of deafness. Though a major mutation, 35delG, is easily detectable by PCR digest; it is often present in the compound heterozygous state in our population in trans with recurrent, but less frequent, mutations. The CX26 gene is composed of a single coding exon that facilitates sequencing strategies. However, for mutation screening purposes, it is necessary to use high-throughput and cost-effective genotyping methods. Therefore, we have assessed denaturing high-performance liquid chromatography (dHPLC) in patients with known mutations in the CX26 gene. We conclude that dHPLC analysis is suitable for rapid and reliable scanning of the gene in deaf patients.
authors.affiliation: Laboratoire de Génétique Moléculaire, CHU Montpellier, France.
authors.forename: N
authors.initials: N
authors.lastname: Pallares-Ruiz
authors.forename: P
authors.initials: P
authors.lastname: Blanchet
authors.forename: M
authors.initials: M
authors.lastname: Mondain
authors.forename: S
authors.initials: S
authors.lastname: Low-Hong
authors.forename: J
authors.initials: J
authors.lastname: Demaille
authors.forename: M
authors.initials: M
authors.lastname: Claustres
authors.forename: A F
authors.initials: AF
authors.lastname: Roux
mesh_terms: D002851:Chromatography, High Pressure Liquid / Q000191:economics / Q000379:methods; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003362:Cost-Benefit Analysis; D004252:DNA Mutational Analysis; D005602:France; D005820:Genetic Testing / Q000191:economics / Q000379:methods*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D009154:Mutation
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26