Conservation of polymorphism in GJB2 gene markers in Iranian population by balancing selection

Abstract

GJB2 gene encodes connexin 26 which is an important skin-expressed gap junction protein. Connexin 26 is a transmembrane protein that is involved in the potassium ion recycling pathway in the inner ear. In this study, the neutrality tests were performed on genotyping data obtained from three polymorphic markers SNP1245, D13S141 and D13S175, located within the GJB2 region. The population genetics analysis packages, PyPop and Popgene32, were used for the analysis of the data obtained from Iranian population. Fnd value of three markers, SNP1245, D13S141 and D13S175, in Iranian population was estimated -0.5980, -1.0155 and -0.6457, respectivelybut without significant P values. The results indicated the influence of balancing selection on polymorphic markers at GJB2 gene. In the studied population, the F value of three markers lied inside L95 and U95 region of expected F value which showed no effect of genetic hitchhiking on markers located within GJB2 region. The results obtained from this study indicated that the polymorphism of these three markers in GJB2 gene was maintained by higher adaptive value of heterozygotes in Iranian population.

Keywords

• Neutrality test
• Balancing selection
• Iranian population
• GJB2 gene