Objective: To investigate the distribution of GJB6 mutations in Central Chinese population with nonsyndromic hearing loss. Method: Totally 655 hearing impaired patients in Hubei province of China were screened for del(GJB6-D13S1830) deletions by using multiplex PCR and sequencing of GJB6 whole coding region. Result: The del(GJB6-D13S1830) and other mutations in GJB6 gene were not observed in our study cohort. Conclusion: The results suggest that GJB6 mutations is not a common cause among Central Chinese population and screening for the mutations of GJB6 can be ranked as unconventional deaf gene test for this population. (C) 2011 Elsevier Ireland Ltd. All rights reserved.
第一作者单位:[2]Cent Hosp Enshi Tujia & Miao Autonomous Prefectur, Dept Pediat, Enshi 445000, Hubei Province, Peoples R China
通讯作者:
通讯机构:[1]Huazhong Univ Sci & Technol, Tongji Med Coll, Dept Med Genet, Wuhan 430030, Peoples R China[*1]Huazhong Univ Sci & Technol, Tongji Med Coll, Dept Med Genet, 13 Hongkong Rd, Wuhan 430030, Peoples R China
推荐引用方式(GB/T 7714):
Chen Peiwei,Chen Hui,Fu Siqing,et al.Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss[J].INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY.2012,76(2):265-267.doi:10.1016/j.ijporl.2011.11.018.
APA:
Chen, Peiwei,Chen, Hui,Fu, Siqing,Chen, Guanming&Dong, Jiashu.(2012).Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss.INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY,76,(2)
MLA:
Chen, Peiwei,et al."Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss".INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY 76..2(2012):265-267