Frequência da mutação GJB2:c.35delG em uma amostra da população de Monte Santo-BA

Abstract

Objective: The GJB2:c.35delG mutation is very common among the individuals with non-syndromic hearing impairment at Monte Santo City of countryside state of Bahia, which makes necessary the study of the frequency of the mutation on the general population. Methods: This study investigated 269 non-deaf individuals for the GJB2:c.35delG variant through DNA Sanger sequencing. Results: 9 out of the 269 individuals were heterozygous carriers for the mutations, resulting in 3,35% of the genotypic frequency. Discussion: Other studies corroborates with the frequency found, due the European ancestry of the city and the high frequency of endogamic marriage. Conclusions: Beyond have a homozygous mutant high frequency among NSHI individuals, Monte Santo also has an elevated frequency of heterozygous carriers of this variant.