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Mutation analysis of seven consanguineous Uyghur families with non-syndromic deafness.
Wang, Zhen-tao; Chen, Ying; Chen, Dong-ye; Chai, Yong-chuan; Pang, Xiu-hong; Sun, Lian-hua; Wang, Xiao-wen; Yang, Tao; Wu, Hao.
Afiliación
  • Wang ZT; Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medcine, Shanghai, China.
  • Chen Y; Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medcine, Shanghai, China.
  • Chen DY; Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medcine, Shanghai, China.
  • Chai YC; Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medcine, Shanghai, China.
  • Pang XH; Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medcine, Shanghai, China.
  • Sun LH; Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medcine, Shanghai, China.
  • Wang XW; Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medcine, Shanghai, China.
  • Yang T; Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medcine, Shanghai, China. Electronic address: yangtfxl@sina.com.
  • Wu H; Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medcine, Shanghai, China. Electronic address: wuhao622@sina.cn.
Int J Pediatr Otorhinolaryngol ; 78(9): 1513-6, 2014 Sep.
Article en En | MEDLINE | ID: mdl-25015771
OBJECTIVE: To investigate the genetic causes of consanguineous Uyghur families with nonsyndromic deafness. METHOD: Seven consanguineous Uyghur families with nonsyndromic deafness were recruited in this study and characterized for their audiometric phenotype. Mutation analysis of common deafness genes GJB2, SLC26A4 and MT-RNR1 was performed in all families by direct sequencing. RESULT: Bi-allelic mutations in SLC26A4, including p.N392Y/p.N392Y, p.S57X/p.S57X and p.Q413R/p.L676Q, were detected in three families as the pathogenic causes for the deafness. No mutations were identified in GJB2 and MT-RNR1. CONCLUSION: Mutations in SLC26A4 was the most common causes of the Uyghur consanguineous deaf families.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Análisis Mutacional de ADN / Consanguinidad / Pueblo Asiatico / Pérdida Auditiva Sensorineural Límite: Humans / Male País/Región como asunto: Asia Idioma: En Revista: Int J Pediatr Otorhinolaryngol Año: 2014 Tipo del documento: Article País de afiliación: China Pais de publicación: Irlanda
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Análisis Mutacional de ADN / Consanguinidad / Pueblo Asiatico / Pérdida Auditiva Sensorineural Límite: Humans / Male País/Región como asunto: Asia Idioma: En Revista: Int J Pediatr Otorhinolaryngol Año: 2014 Tipo del documento: Article País de afiliación: China Pais de publicación: Irlanda