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 Bioljournal_title
Human biologyauthors
Oliveira CA,Alexandrino F,Abe-Sandes K,Silva WA Jr,Maciel-Guerra AT,Magna LA,Sartorato ELdoi
10.1353/hub.2004.0035keywords:
subject
Has Abstractpub_date
2004-04-01 00:00:00pages
313-6issue
2eissn
0018-7143issn
1534-6617journal_volume
76pub_type
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