GJB۲ Polymorphism rs۷۳۲۹۸۵۷ is associated with autosomal recessive non-syndromic hearing loss in Iranian population

Backgrounds: Hearing loss is one of the common disorders. This study aimed to determine therelationship between single nucleotide changes of rs۷۳۲۹۸۵۷ GJB۲ gene and rs۷۳۳۳۲۱۴ GJB۶gene in patients’ non-syndromic sensorineural deafness with autosomal recessive inheritance.Materials and Methods: ۳۲ whole blood samples with EDTA from Iranian patients and ۳۲actual blood samples from healthy people were prepared. It examined the presence/absence ofband results from the reaction. Bands reported by Tetra-Arms-PCR method.Results: Studies performed on ۳۲ deaf patient samples and ۳۲ control samples for the GJB۲gene with rs۷۳۲۹۸۵۷ report that in the control sample, the percentage of healthy allele frequencyCC was ۸۴.۴%, and the mutant allele frequency percentage TT and CT was۱۵.۶% and ۰.۰%,respectively. In the patient sample, the percentage of healthy allele frequency CC was ۶۸.۷%,and the ratio of mutant allele frequency TT, CT, and P-Value was ۳۱.۳%, ۰.۰%, and ۰.۰۴۰۰,respectively. It was statistically significant. The healthy allele frequency of GG was ۷۸.۱%,mutant allele frequency of TT and GT was ۰.۰% and ۲۱.۹%, respectively, for the GJB۶ genewith rs۷۳۳۳۲۱۴ in the control sample. The healthy allele of GG was ۶۵.۶%, the mutant allele TTand GT rate was ۹.۴% and ۲۵%, respectively, in the sample of patients. P-Value: ۰.۱۰۰۵reported, it was not statistically significant (۰.۰۵ P-Value> is substantial).Conclusion: This study showed that rs۷۳۲۹۸۵۷ (C/T) polymorphism in GJB۲ gene is aneffective polymorphism in increasing the risk of ARNSHL; however, rs۷۳۳۳۲۱۴ (G/T) in GJB۶gene does not demonstrate a significant relationship with the incidence of ARNSHL in theIranian deaf population.

کلیدواژه ها:

ARNSHL ، GJB۲ ، GJB۶ ، Polymorphism