Prevalence of the 35delG mutation in the GJB2 gene in two samples of non-syndromic deaf subjects from Chile
Biol. Res
;
46(3): 239-242, 2013. tab
Artículo
en Inglés
| LILACS
| ID: lil-692189
ABSTRACT
Hearing loss is the most common inherited sensorial deficiency in humans; about 1 in 1000 children suffer from severe or profound hearing loss at birth. Mutations in the GJB2 gene are the most common cause of prelingual, non-syndromic autosomal recessive deafness in many populations; the c.35delG mutation is the most common in Caucasian populations. The frequency of the c.35delG mutation was estimated in two samples of deaf patients from Santiago, Chile. Unrelated non-syndromic sensorioneural deaf patients were examined Group 1 consisted of 47 unrelated individuals with neurosensory deafness referred to the Chilean Cochlear Implant Program; Group 2 included 66 school children with prelingual deafness attending special education institutions for deaf people. Individuals with profound to moderate isolated neurosensory hearing loss with unknown etiology were included. The presence of the c.35delG mutation was evaluated by the allele-specific polymerase chain reaction method (PCR), and in some cases it was confirmed by direct DNA sequencing of the coding region of the GJB2 gene. Deaf relatives were present in 20.3% of the cases. We found 19.5% (22/113) patients with the c.35delG mutation, 6 of them homozygous; these rates are similar to frequencies found in other Latin American countries.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Pérdida Auditiva Sensorineural
/
Mutación
Tipo de estudio:
Estudio de prevalencia
/
Factores de riesgo
Límite:
Adolescente
/
Adulto
/
Niño
/
Child, preschool
/
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
America del Sur
/
Chile
Idioma:
Inglés
Revista:
Biol. Res
Asunto de la revista:
Biologia
Año:
2013
Tipo del documento:
Artículo
País de afiliación:
Chile
Institución/País de afiliación:
Universidad de Chile/CL
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