title: A simple method of screening for the common connexin-26 gene 35delG mutation in nonsyndromic neurosensory autosomal recessive deafness.
abstract: Mutations in the Connexin-26 gene are responsible for up to 60% of nonsyndromic, neurosensory autosomal recessive deafness (NSRD). Amongst all the mutations described to date, 35delG (a deletion of a G in a tract of five Gs at positions 30-35) is the most common and has been found in virtually all of the populations studied. Because its frequency varies in different populations, a rapid and simple method of detection of this mutation would be very helpful in population studies. A wide variety of methods for this detection have been described, but we herein present a very simple method using a PCR with primers designed to provide an amplicon of 94 or 93 nucleotides for the normal or mutant alleles, respectively, that can be easily distinguished in an 8% polyacrylamide gel. The entire protocol can be completed in a morning, thus supporting multiple runs. This assay will be useful in screening the large sample sizes required for population studies.
authors.affiliation: Laboratorio de genética molecular, Servicio de Análisis Clínicos, Hospital Materno-Infantil, 35016-Las Palmas de Gran Canaria, Canary Islands, Spain. m.fernande.012@recol.es
authors.forename: Miguel
authors.initials: M
authors.lastname: Fernández-Burriel
authors.forename: Francisco
authors.initials: F
authors.lastname: Rodríguez-Quiñones
mesh_terms: D001483:Base Sequence; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D017931:DNA Primers / Q000235:genetics; D003638:Deafness / Q000235:genetics*; D005808:Genes, Recessive; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods; D017384:Sequence Deletion; D013030:Spain
chemical_list: D017630:Connexins; D017931:DNA Primers; D000072259:Connexin 26