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Genet Test. 2001 Summer;5(2):149-52.

Meta-analysis of GJB2 mutation 35delG frequencies in Europe.

Author information

  • 1International Institute of Anthropology, Paris, France. lucotte@hotmail.com

Abstract

Mutations in the gene encoding connexin-26 (specified GJB2) have been shown to be a major cause of nonsyndromic recessive deafness (NSRD), and a single mutation 35delG in the GJB2 gene accounts for the majority of cases of NSRD. This mutation was screened in France and in other European populations by a reliable PCR method. We present here a meta-analysis of the 35delG frequencies in 4123 random controls from 20 European countries, and show that the mutation is more frequent in the south of Europe than in the north; a north-south increasing cline of 35delG frequencies is established (r = -0.527).

PMID:
11551104
DOI:
10.1089/109065701753145646
[PubMed - indexed for MEDLINE]
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