[Prospects for genetic hearing loss screening: 35delG mutation tracking in a newborn population].
OBJECTIVE
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.


METHODS
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.


CONCLUSIONS
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.
Piatto
Vânia B
VB
Departamento de Anatomia, Faculdade de Medicina de São José do Rio Preto (FAMERP), SP. vabp@bol.com.br
Oliveira
Camila A
CA
Alexandrino
Fabiana
F
Pimpinati
Carla J
CJ
Sartorato
Edi L
EL
D001938:Brazil / Q000453:epidemiology; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005820:Genetic Testing; D034381:Hearing Loss / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics*; D015995:Prevalence
D017630:Connexins; D000072259:Connexin 26