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Type: Artigo de periódico
Title: Frequency of the 35delG mutation in the GJB2 gene in samples of European, Asian, and African Brazilians
Author: Oliveira, CA
Alexandrino, E
Abe-Sandes, K
Silva, WA
Maciel-Guerra, AT
Magna, LA
Sartorato, EL
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.
Subject: GJB2
Brazilian population
congenital deafness
Country: EUA
Editor: Wayne State Univ Press
Citation: Human Biology. Wayne State Univ Press, v. 76, n. 2, n. 313, n. 316, 2004.
Rights: embargo
Identifier DOI: 10.1353/hub.2004.0035
Date Issue: 2004
Appears in Collections:Unicamp - Artigos e Outros Documentos

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