title: Multiplex detection of common mutations in the Connexin-26 gene.
abstract: Hearing impairment that results from inherited genetic defects occurs in approximately 1/2,000 live births. Mutations in the Connexin-26 gene have been shown to be a major contributor to prelingual, nonsyndromic, autosomal recessive deafness in many populations. The most common mutations in this gene are 35delG, 167delT, 235delC, M34T, and W77X. We describe a nonisotopic, single-tube, polymerase chain reaction (PCR) multiplex system for the detection of these common mutations. The method presented is reliable, simple, and low in cost.
authors.affiliation: Department of Molecular Biology and Genetics, Bogazici University, Bebek 80815, Istanbul, Turkey. barisibr@boun.edu.tr
authors.forename: I
authors.initials: I
authors.lastname: Baris
authors.forename: V
authors.initials: V
authors.lastname: Köksal
mesh_terms: D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000191:economics / Q000379:methods*; D003638:Deafness / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D015203:Reproducibility of Results
chemical_list: D017630:Connexins; D000072259:Connexin 26