European Journal of Biomedical and Pharmaceutical Sciences

ASSESSMENT OF HIGH FREQUENCY 35DELG MUTATION IN GJB2-RELATED DEAFNESS SYNDROME IN A POPULATION WITHOUT TABRIZ CITY, IRAN

*Belal Mohammadi and Shahin Asadi

ABSTRACT

Research conducted in different parts of the country reflects the importance of the 35delG mutation in the GJB2 gene. But the mutations listed in the incidence of non-syndromic deafness with autosomal recessive inheritance pattern (ARNSHL) in the city of Tabriz is unknown. In this study, the mutation frequency in the population are non-syndromic hearing was conducted in Tabriz. Non-syndromic recessive deafness Tabrizi 79 non-related patients were studied. Screening of GJB2 35delG mutation that causes some cases of this type of hearing loss is considered, using molecular techniques ARMS - PCR (Allel Refraction Mutation System - Polymerase Chain Reaction) and the nucleotide sequences were determined. 137 studied chromosomes 35delG mutation was detected in 43 chromosomes. 35delG mutation in most areas of the country, especially in the North and North West, high frequency and thus to be based in the North West of the city of Tabriz, Tabriz, the mutation frequency in the population is too common.

Keywords: deafness, mutation 35delG, autosomal recessive, protein CX26, Tabriz.