title: Easy, rapid, and cost-effective methods for identifying carriers of recurrent GJB2 mutations causing nonsyndromic hearing impairment in the Greek population.
abstract: A variety of techniques have been developed for screening the GJB2 gene for known and unknown mutations, especially the most common mutation in the Caucasian population, the c.35delG. Other mutations that have been so far characterized in the GJB2 gene seem to have different geographical distributions, and therefore there is an interest in identifying recurrent mutations specific for each population and developing easy and rapid screening techniques. Here we present easy screening protocols for already identified recurrent mutations in the Greek population. Developing easy, rapid, and cost-effective screening methods will facilitate the detection of GJB2 recurrent mutation carriers, at large, in the Greek population.
authors.affiliation: Department of Genetics, Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece. hkokotas@yahoo.gr
authors.forename: Haris
authors.initials: H
authors.lastname: Kokotas
authors.forename: Maria
authors.initials: M
authors.lastname: Grigoriadou
authors.forename: Angeliki
authors.initials: A
authors.lastname: Hatzaki
authors.forename: Thalia
authors.initials: T
authors.lastname: Antoniadi
authors.forename: Aglaia
authors.initials: A
authors.lastname: Giannoulia-Karantana
authors.forename: Michael B
authors.initials: MB
authors.lastname: Petersen
mesh_terms: D001483:Base Sequence; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003362:Cost-Benefit Analysis; D017931:DNA Primers / Q000235:genetics; D003638:Deafness / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005808:Genes, Recessive; D006580:Genetic Carrier Screening / Q000379:methods*; D005820:Genetic Testing / Q000191:economics / Q000379:methods*; D006115:Greece; D034381:Hearing Loss / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017384:Sequence Deletion
chemical_list: D017630:Connexins; D017931:DNA Primers; C000607042:GJB2 protein, human; D000072259:Connexin 26