Frequency of the 35delG Mutation in the GJB2 Gene in Samples of European, Asian, and African Brazilians

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...

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Bibliographic Details
Published in:Human biology 2004-04, Vol.76 (2), p.313-316
Main Authors: OLIVEIRA, C.A., ALEXANDRINO, F., ABE-SANDES, K., SILVA, W.A., MACIELGUERRA, A.T., MAGNA, L.A., SARTORATO, E.L.
Format: Article
Language:English
Subjects:
Africa
Ancestry
Asia
Asians
Biological anthropology
Brazil
Brazil - ethnology
Brazilians
Brief Communications
Carrier frequencies
Connexins
Connexins - genetics
Deafness
Deafness - congenital
Deafness - genetics
DNA
DNA Mutational Analysis
Europe
Gene mutation
Gene mutations
Genetic aspects
Genetic disorders
Genetic linkage
Genetic mutation
Genetic research
Genetics
Human biology
Human genetics
Humans
Minority & ethnic groups
Mutation
Polymerase Chain Reaction
Population genetics
Risk factors
White people
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Summary: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.
ISSN:0018-7143
1534-6617
1534-6617
DOI:10.1353/hub.2004.0035