title: Frequency of the 35delG mutation in the GJB2 gene in samples of European, Asian, and African Brazilians.
abstract: Mutations in the GJB2 gene are a major cause of congenital deafness. One specific mutation, the 35delG mutation, has accounted for most of the GJB2 mutations detected in European populations and is one of the most frequent disease mutations identified so far. We evaluated the frequency of the 35delG mutation in DNA samples from Brazilians of European, Asian, and African ancestry. All DNA samples were screened for the 35delG mutation using an allele-specific PCR. This study shows that the frequency of a common mutation (35delG) is significantly lower in non-European populations.
authors.affiliation: Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Barão Geraldo, Campinas, São Paulo 13083-970, Brazil.
authors.forename: C A
authors.initials: CA
authors.lastname: Oliveira
authors.forename: F
authors.initials: F
authors.lastname: Alexandrino
authors.forename: K
authors.initials: K
authors.lastname: Abe-Sandes
authors.forename: W A
authors.initials: WA
authors.lastname: Silva
authors.forename: A T
authors.initials: AT
authors.lastname: Maciel-Guerra
authors.forename: L A
authors.initials: LA
authors.lastname: Magna
authors.forename: E L
authors.initials: EL
authors.lastname: Sartorato
mesh_terms: D000349:Africa; D001208:Asia; D001938:Brazil / Q000208:ethnology; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D004252:DNA Mutational Analysis; D003638:Deafness / Q000151:congenital* / Q000235:genetics; D005060:Europe; D006801:Humans; D016133:Polymerase Chain Reaction
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26