The Journal of International
Advanced Otology
Original Article

The Prevalence of Gap Junction Protein Beta 2 (GJB2) Mutations in Non Syndromic Sensorineural Hearing Loss in Çukurova Region

1.

Department of Medical Genetics, Mersin University Faculty of Medicine, Mersin, Turkey

2.

Clinic of Otorhinolaryngology, Adana Numune Training and Research Hospital, Adana, Turkey.

3.

Clinic of Medical Genetics, Adana Numune Training and Research Hospital, Adana, Turkey

4.

Department of Medical Genetics, Eskişehir Osmangazi University Faculty of Medicine, Eskişehir, Turkey

J Int Adv Otol 2015; 11: 118-121
DOI: 10.5152/iao.2015.1212
Read: 2098 Downloads: 875 Published: 03 September 2019

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.

 

MATERIALS and 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.

 

CONCLUSION: 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.

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EISSN 2148-3817