Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/93785
Type: Artigo de periódico
Title: Prospects For Genetic Hearing Loss Screening: 35delg Mutation Tracking In A Newborn Population
Author: Piatto V.B.
Oliveira C.A.
Alexandrino F.
Pimpinati C.J.
Sartorato E.L.
Abstract: 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. Copyright © 2005 by Sociedade Brasileira de Pediatria.
Editor: 
Rights: aberto
Identifier DOI: 10.2223/1319
Address: http://www.scopus.com/inward/record.url?eid=2-s2.0-28244435942&partnerID=40&md5=9f3ebd8527f720558e167b164febf21a
Date Issue: 2005
Appears in Collections:Unicamp - Artigos e Outros Documentos

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