Meta-analysis of GJB2 mutation 35delG frequencies in Europe.
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).
Lucotte
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International Institute of Anthropology, Paris, France. lucotte@hotmail.com
Mercier
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D000328:Adult; D017668:Age of Onset; D000483:Alleles; D019943:Amino Acid Substitution; D016000:Cluster Analysis; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000453:epidemiology / Q000235:genetics*; D005060:Europe / Q000453:epidemiology; D005602:France / Q000453:epidemiology; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D019083:Mediterranean Region / Q000453:epidemiology; D015997:Neonatal Screening; D016133:Polymerase Chain Reaction; D015995:Prevalence; D017384:Sequence Deletion
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26