title: Frequencies of two common mutations (c.35delG and c.167delT) of the connexin 26 gene in different populations of Hungary.
abstract: The most common form of non-syndromic autosomal recessive deafness (NSRD) is caused by mutations in the gene GJB2, encoding the protein connexin 26 (Cx26). The mutation c.35delG is found in 30-70% of Caucasian NSRD cases, and is abundant (allele frequency of 0.5-2%) in several European populations, while c.167delT is found in the Ashkenazi Jewish population with about 2% frequency. In the current study, using simple PCR-based tests we established an allele frequency of 0.6% in the Hungarian average, and 0.4% in the Romani (Gypsy) populations for the c.35delG mutation, and an allele frequency of 2.4% in the Ashkenazi population for the c.167delT mutation. Our results do not differ significantly from the published data for Caucasian and non-European Ashkenazi populations and they present figures for the Romani population for the first time. Both mutations may be significant causative factors among the NSRD cases of the respective populations in Central Europe.
authors.affiliation: National Medical Center, Institute of Haematology and Immunology, Budapest, Hungary.
authors.forename: András
authors.initials: A
authors.lastname: Bors
authors.forename: Hajnalka
authors.initials: H
authors.lastname: Andrikovics
authors.forename: Lajos
authors.initials: L
authors.lastname: Kalmár
authors.forename: Noémi
authors.initials: N
authors.lastname: Erdei
authors.forename: Sándor
authors.initials: S
authors.lastname: Galambos
authors.forename: András
authors.initials: A
authors.lastname: Losonczi
authors.forename: Sándor
authors.initials: S
authors.lastname: Füredi
authors.forename: István
authors.initials: I
authors.lastname: Balogh
authors.forename: Csaba
authors.initials: C
authors.lastname: Szalai
authors.forename: Attila
authors.initials: A
authors.lastname: Tordai
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000453:epidemiology / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D005838:Genotype; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D008297:Male; D009154:Mutation / Q000235:genetics*
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26