Frequencies of two common mutations (c.35delG and c.167delT) of the connexin 26 gene in different populations of Hungary.
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.
Bors
András
A
National Medical Center, Institute of Haematology and Immunology, Budapest, Hungary.
Andrikovics
Hajnalka
H
Kalmár
Lajos
L
Erdei
Noémi
N
Galambos
Sándor
S
Losonczi
András
A
Füredi
Sándor
S
Balogh
István
I
Szalai
Csaba
C
Tordai
Attila
A
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*
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26