Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Greek Cypriot population

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.