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Jornal de Pediatria

Print version ISSN 0021-7557

Abstract

PIATTO, Vânia B. et al. Prospects for genetic hearing loss screening: 35delG mutation tracking in a newborn population. J. Pediatr. (Rio J.) [online]. 2005, vol.81, n.2, pp. 139-142. ISSN 0021-7557.  http://dx.doi.org/10.1590/S0021-75572005000300009.

OBJECTIVES: To investigate the prevalence of the 35delG mutation in a newborn population, with specific molecular testing, and to evaluate the prospects for genetic neonatal screening for hearing impairment. POPULATION AND METHOD: 233 newborn were evaluated at the Hospital de Base de São José do Rio Preto, SP, for molecular analysis of the 35delG mutation in the connexin 26 gene, with the reaction technique in allele-specific polymerase chain reaction, after genomic DNA extraction from umbilical cord blood. RESULTS: Five heterozygotes were identified, obtaining a prevalence of 2.24% of 35delG mutation carriers in the study population. CONCLUSION: Using the molecular test allowed for the identification of the 35delG mutation in the study population with the possibility of being used as a complement to neonatal audiometric screening as being simple, fast, and easily to perform with low costs.

Keywords : 35delG mutation; molecular analysis; hearing impairment; neonatal screening.

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