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GJB2 mutations are rare in probands with hearing loss in Chinese assortative mating families

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收录情况： ◇ SCIE

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单位： [1]Huazhong Univ Sci & Technol,Tongji Med Coll,Tongji Hosp,Dept Otolarygol,Wuhan 430074,Peoples R China [2]Huazhong Univ Sci & Technol, Tongji Med Coll, Dept Med Genet, Wuhan 430030, Peoples R China [3]Rehabil Res Ctr Deaf Children, Wuhan, Peoples R China [4]Nanjing Med Univ, Huaian Peoples Hosp 1, Dept Pediat, Huaian 223300, Peoples R China

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关键词： Assortative mating GJB2 Mutation Hearing loss China

摘要：

Objective: GJB2 mutation is recognized as the prevalent causes of non-syndromic hearing loss (NSHL) worldwide. However, the mutation profiles of GJB2 are rarely reported in deafness probands of the assortative mating family. Therefore, this study aimed to characterize the frequencies. of GJB2 mutations in probands with hearing loss in the assortative mating family in Hubei province, Central China. Methods: Genomic DNA was extracted from blood samples of 29 probands with hearing loss. The target fragments were amplified by polymerase chain reaction (PCR) and subjected to sequencing to identify sequence variations. Results: None of 29 probands harbored homozygous mutation in GJB2, while GJB2 heterozygous mutations c.134G>A, c.139G>T, and a deletion c.235delC were identified in three probands, respectively. Conclusion: GJB2 mutations are rare in Chinese probands of assortative mating families. Screening for responsible genes other than GJB2 is necessary for NSHL in these probands. (C) 2013 Elsevier Ireland Ltd. All rights reserved.

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出版当年[2013]版：

大类 | 4 区医学

小类 | 3 区耳鼻喉科学 4 区儿科

最新[2025]版：

大类 | 4 区医学

小类 | 4 区耳鼻喉科学 4 区儿科

JCR分区：

出版当年[2012]版：

Q2 OTORHINOLARYNGOLOGY Q3 PEDIATRICS

最新[2023]版：

Q3 OTORHINOLARYNGOLOGY Q3 PEDIATRICS

影响因子： 1.2 最新[2023版] 1.5 最新五年平均 1.35 出版当年[2012版] 1.447 出版当年五年平均 1.167 出版前一年[2011版] 1.319 出版后一年[2013版]

第一作者：

第一作者单位： [1]Huazhong Univ Sci & Technol,Tongji Med Coll,Tongji Hosp,Dept Otolarygol,Wuhan 430074,Peoples R China

通讯作者：

通讯机构： [4]Nanjing Med Univ, Huaian Peoples Hosp 1, Dept Pediat, Huaian 223300, Peoples R China [*1]Nanjing Med Univ, Huaian Peoples Hosp 1, Dept Pediat, 6 Beijing Rd West, Huaian 223300, Peoples R China

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