Joe Joseph, Anu Yamuna JosephIndian Journal of Otology 2021 27(4):222-224
Purpose: The aim is to study the carrier rate of connexin 26 (Cx26) W24X gene mutation among the general population of Kerala, India. Subjects and Methods: This study included 248 normal-hearing individuals from the general population of Kerala, India. Polymerase chain reaction-restriction fragment length polymorphism was performed to detect the presence of Cx26 W24X mutation. Results: Of the 248 individuals, 7 cases were heterozygous and 241 cases were homozygous normal. The results showed a carrier frequency of 2.82% for the Cx26 W24X mutation in the Kerala population. Conclusion: Among the selected Kerala population sample, the Cx26 gene mutation showed a high carrier rate. Early detection of nonsyndromic hearing impairment has been proven to be very helpful in speech therapy and language development. Given the high carrier rate of Cx26 W24X mutation in the Kerala population, we propose the genetic screening of the suspected newborns for W24X mutation in the Cx26 gene.
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