[Combined hearing and deafness gene mutation screening of 11,046 Chinese newborns].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 32(6): 766-70, 2015 Dec.
Article
en Zh
| MEDLINE
| ID: mdl-26663044
ABSTRACT
OBJECTIVE:
To evaluate the efficacy of combined newborn hearing screening and deafness-related mutation screening.METHODS:
Eleven thousand and forty-six newborn babies were screened with otoacoustic emission, automatic auditory brainstem response and genetic testing using a standard protocol. Common mutations of three deafness-related genes have included GJB2 (c.235delC, c.299-300delAT), mtDNA 12srRNA (c.1494C>T, c.1555A>G) and SLC26A4 (c.2168A>G, c.IVS7-2A>G).RESULTS:
The detection rate for hearing loss in the first-step screening was 0.81% (90/11,046). 513 individuals were found to carry one or two mutant alleles, which gave a carrier rate of 4.64% (513/11,046). Five hundred and eighty-four newborns were positive for hearing screening and genetic screening. Among these, 19 have failed both tests, 71 have failed hearing screening, and 494 have failed genetic screening. The combined hearing and genetic screening has given a positive rate of 5.29%.CONCLUSION:
Neither hearing screening nor genetic screening is sufficient to identify individuals susceptible to auditory disorders. Combined used of these methods can improve the rate of detection.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Proteínas de Transporte de Membrana
/
ARN Ribosómico
/
Conexinas
/
Sordera
/
Audición
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Límite:
Humans
/
Newborn
País/Región como asunto:
Asia
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2015
Tipo del documento:
Article