Frequencies of two common mutations (c.35delG and c.167delT) of the connexin 26 gene in different populations of Hungary.

@article{Bors2004FrequenciesOT,
  title={Frequencies of two common mutations (c.35delG and c.167delT) of the connexin 26 gene in different populations of Hungary.},
  author={Andras Bors and Hajnalka Andrikovics and Lajos Kalm{\'a}r and No{\'e}mi Erdei and S{\'a}ndor Galambos and Andr{\'a}s Losonczi and S{\'a}ndor F{\"u}redi and Istv{\'a}n Balogh and Csaba Szalai and Attila Tordai},
  journal={International journal of molecular medicine},
  year={2004},
  volume={14 6},
  pages={1105-8}
}
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… CONTINUE READING