title: Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Greek Cypriot population.
abstract: OBJECTIVE
  Mutations in the GJB2 (connexin-26) gene are responsible for more than half of all cases of prelingual recessive inherited non-syndromic deafness in Europe. One specific mutation 35delG, accounts for up to 70% of the mutations detected in European populations and is one of the most frequent disease mutations identified so far. The aim of this study is to determine the percentage of carriers of this mutation in the Greek Cypriot population.
  
  
  METHODS
  Genomic DNA was isolated from a total of 405 healthy unrelated Greek Cypriot adults. Screening for the frameshift 35delG mutation was performed by using an allele-specific PCR protocol. Moreover, using the Poisson probability distribution, we compared the carrier frequencies of the 35delG mutation of the Greek Cypriot population to the various European and Middle Eastern populations.
  
  
  RESULTS
  The carrier frequency in the Greek Cypriot population was estimated to be 2.5% and is similar to that observed in other European populations. The variance estimate for 35delG mutation produces slightly wider intervals with the Poisson model when compared with Binomial probability variance estimate.
authors.affiliation: Department of Molecular Genetics C, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, Cyprus.
authors.forename: Vassos
authors.initials: V
authors.lastname: Neocleous
authors.forename: George
authors.initials: G
authors.lastname: Portides
authors.forename: Violetta
authors.initials: V
authors.lastname: Anastasiadou
authors.forename: Leonidas A
authors.initials: LA
authors.lastname: Phylactou
mesh_terms: D000328:Adult; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003535:Cyprus; D003638:Deafness / Q000235:genetics; D016368:Frameshift Mutation; D005828:Genetics, Population; D006579:Heterozygote; D006801:Humans; D016012:Poisson Distribution
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26