title: The Prevalence of Gap Junction Protein Beta 2 (GJB2) Mutations in Non Syndromic Sensorineural Hearing Loss in Çukurova Region.
abstract: OBJECTIVE
  To date, studies in all populations showed that mutations in the gene of Gap junction protein beta 2 (GJB2) play an important role in non-syndromic autosomal recessive congenital hearing loss. The aim of this study was to evaluate GJB2 gene of patients with hearing loss in our region using deoxyribonucleic acid (DNA) sequencing method and to demonstrate region-specific mutation and polymorphism distribution.
  
  
  METHODS
  Patients who had bilateral severe sensorineural non-syndromic hearing loss identified by audiologic evaluation were included. Peripheral blood samples were collected and the GJB2 gene exon1 and exon 2 regions were amplified by polymerase chain reaction (PCR). Obtained PCR products were sequenced by the DNA sequence analysis method (SeqFinder Sequencing System; ABI 3130; Foster City, CA, USA) and analyzed using the SeqScape software.
  
  
  RESULTS
  Of the 77 patients, 16 had homozygous or heterozygous mutation.
  
  
  CONCLUSIONS
  The mutation of 35delG, which is known as the most frequent mutation of GJB2 gene, was also the most frequently seen mutation at a ratio of 5.5% in patients with hearing loss in our region; this was followed by the V27I mutation. As this is the first study conducted by sequence analysis in our region, it was worth to be presented in terms of showing the distribution of mutation.
authors.affiliation: Department of Medical Genetics, Mersin University Faculty of Medicine, Mersin, Turkey. drsuheylhayt@hotmail.com.
authors.forename: Sevcan Tuğ
authors.initials: ST
authors.lastname: Bozdoğan
authors.forename: Gökhan
authors.initials: G
authors.lastname: Kuran
authors.forename: Özge Özalp
authors.initials: ÖÖ
authors.lastname: Yüregir
authors.forename: Hüseyin
authors.initials: H
authors.lastname: Aslan
authors.forename: Süheyl
authors.initials: S
authors.lastname: Haytoğlu
authors.forename: Akif
authors.initials: A
authors.lastname: Ayaz
authors.forename: Osman Kürşat
authors.initials: OK
authors.lastname: Arıkan
mesh_terms: D000293:Adolescent; D001299:Audiometry / Q000379:methods; D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D012720:Severity of Illness Index; D014421:Turkey / Q000453:epidemiology
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26