[Mutation analysis of GJB2 gene in 1 822 patients with nonsyndromic hearing loss in Zhejiang Province].
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
; 31(5): 352-355, 2017 Mar 05.
Article
en Zh
| MEDLINE
| ID: mdl-29871260
ABSTRACT
Objective:
To analyze the genetic characteristics in nonsyndromic hearing impairment (NSHL) patients in Zhejiang province.Method:
Peripheral blood samples were obtained from 1822 NSHL patients and 467 normal hearing controls in Zhejiang province. We carried out a systematic mutational screening of GJB2 gene in these subjects by amplifying the coding region of GJB2 gene and sequencing directly.Result:
Thirty kinds of mutation were identified, including eleven pathogenic mutations, one hypomorphic allele, sixteen polymorphic mutations and two novel mutations. The c.235delC mutation was the most prevalent pathogenic mutation in this cohort (18.50%), and the rate of allele mutation was 12.16%. The frequency of c.299_300delAT,c.176_191del16,c.512_513insAACG,c.35delG,c.283G>A,c.427C>T,c.35insG,c.439G>A,c.571T>C,c.139G>T mutations were decreased in turn.Conclusion:
c.235delC mutation is the hot spot of GJB2 gene mutation in NSHL patients in Zhejiang province and the most common mutational pattern is frame-shift mutation. The discovery of novel mutations enriches the spectrum and frequency of variants in GJB2 gene.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Mutación Puntual
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Sordera
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Conexina 26
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Pérdida Auditiva
Tipo de estudio:
Observational_studies
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Prognostic_studies
Límite:
Humans
Idioma:
Zh
Revista:
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Año:
2017
Tipo del documento:
Article
País de afiliación:
China