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.

journal_name

Hum Biol

journal_title

Human biology

authors

Oliveira CA,Alexandrino F,Abe-Sandes K,Silva WA Jr,Maciel-Guerra AT,Magna LA,Sartorato EL

doi

10.1353/hub.2004.0035

keywords:

subject

Has Abstract

pub_date

2004-04-01 00:00:00

pages

313-6

issue

2

eissn

0018-7143

issn

1534-6617

journal_volume

76

pub_type

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