Frequency of W24X Gene Polymorphism among the Students from Hearing Impaired Schools of Shimoga District

Abstract

Introduction An important accompaniment of Non-syndromic sensorineural hearing loss is family history and consanguinity. One of the widely studied single nucleotide polymorphism is the gap junction protein beta-2 (GJB2) gene which encodes the protein connexin26. This study aims to detect the frequency of W24X mutation in a population with non-syndromic sensorineural hearing loss concerning the degree of consanguinity. Materials and Methods The study includes 76 subjects with Non-syndromic sensorineural hearing loss. These subjects had congenital sensorineural hearing loss and other causes for the same had been ruled out. The SNP rs 104894396 was identified by the PCR-RFLP method. Results The frequency of the wild allele was 0.84% and the mutant allele was 0.15%. The frequency of wild allele and mutant allele did not differ much between patients with and without consanguinity. The association between consanguineous marriage and allele frequency was not significant. Gene polymorphism was not present in 77 percent of our NSHL subjects, though 79 percent of our study population were a result of consanguineous marriage. Conclusion Though the role of consanguineous marriages in congenital sensorineural hearing loss is well established, the association between allele frequency and consanguineous marriage was not seen. We assume that other genes responsible for deafness may be involved in the population.