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Combination of hearing screening and genetic screening for deafness-susceptibility genes in newborns.
Yao, Gen-Dong; Li, Shou-Xia; Chen, Ding-Li; Feng, Hai-Qin; Zhao, Su-Bin; Liu, Yong-Jie; Guo, Li-Li; Yang, Zhi-Ming; Zhang, Xiao-Fang; Sun, Cai-Xia; Wang, Ze-Hui; Zhang, Wei-Yong.
Afiliación
  • Yao GD; Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China.
  • Li SX; Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China.
  • Chen DL; Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China.
  • Feng HQ; Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China.
  • Zhao SB; Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China.
  • Liu YJ; Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China.
  • Guo LL; Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China.
  • Yang ZM; Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China.
  • Zhang XF; Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China.
  • Sun CX; Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China.
  • Wang ZH; Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China.
  • Zhang WY; Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China.
Exp Ther Med ; 7(1): 218-222, 2014 Jan.
Article en En | MEDLINE | ID: mdl-24348793
The aim of this study was to determine the clinical significance of the results of screening of newborn hearing and the incidence of deafness-susceptibility genes. One thousand newborn babies in the Handan Center Hospital (Handan, China) underwent screening of hearing and deafness-susceptibility genes. The first screening test was carried out using otoacoustic emissions (OAEs). Babies with hearing loss who failed to pass the initial screening were scheduled for rescreening at 42 days after birth. Cord blood was used for the screening of deafness-susceptibility genes, namely the GJB2, SLC26A4 and mitochondrial 12S rRNA (MTRNR1) genes. Among the 1,000 neonates that underwent the first hearing screening, 25 exhibited left-sided hearing loss, 21 exhibited right-sided hearing loss and 15 cases had binaural hearing loss. After rescreening 42 days later, only one of the initial 61 cases exhibited hearing loss under OAE testing. The neonatal deafness gene tests showed two cases with 1555A>G mutation and two cases with 1494C>T mutation of the MTRNR1 gene. In the SLC26A4 gene screening, four cases exhibited the heterozygous IVS7-2A>G mutation and one case exhibited heterozygous 1226G>A mutation. In the GJB2 gene screening, two cases exhibited the homozygous 427C>T mutation and 10 exhibited the heterozygous 235delC mutation. The genetic screening revealed 21 newborns with mutations in the three deafness-susceptibility genes. The overall carrier rate was 2.1% (21/1,000). The association of hearing and gene screening may be the promising screening strategy for the diagnosis of hearing loss.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Screening_studies Idioma: En Revista: Exp Ther Med Año: 2014 Tipo del documento: Article Pais de publicación: Grecia
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Screening_studies Idioma: En Revista: Exp Ther Med Año: 2014 Tipo del documento: Article Pais de publicación: Grecia