详情页 - 聚合机构库演示平台

当前位置：首页 > 详情页

GJB2 and mitochondrial DNA 1555A > G mutations in students with hearing loss in the Hubei Province of China

61| 认领 | 导出 | 链接全文 |

文献详情

资源类型：

WOS体系：

Pubmed体系：

收录情况： ◇ SCIE

作者：

单位： [1]Huazhong Univ Sci & Technol, Tongji Med Coll, Dept Med Genet, Wuhan 430030, Peoples R China [2]Huazhong Univ Sci & Technol, Tongji Med Coll, Dept Otolaryngol, Tongji Hosp, Wuhan 430030, Peoples R China [3]Rehabil Res Ctr Deaf Children, Wuhan, Peoples R China

出处：

DOI：

ISSN：

关键词： GJB2 Mitochondrial DNA Mutation Hearing loss Amimoglycosides induced deafness

摘要：

Objectives: The GJB2 and MTRNR1 1555A > G mutations are the prevalent causes of hearing loss worldwide. However, the mutation profiles of the two genes are dependent on the ethnic or geographic origins. Therefore, this study was to characterize the forms and frequencies of the two genes in 813 students with hearing loss in Hubei province, Central China. Methods: Blood samples from 813 students were obtained with informed consent. Genomic DNA was extracted from peripheral blood leukocytes. The target fragments were amplified by polymerase chain reaction (PCR). Sequencing (or enzyme digestion) was applied to identify sequence variations. Results: Ten different mutations were identified in GJB2 in 146 of the 813 (17.96%) patients and 11.81% (96/813) patients had homoplasmic mtDNA 1555A > G mutation. Conclusions: This study demonstrated the high prevalence of GJB2 and mtDNA 1555A > G mutations in Central Chinese population. Therefore, it will be effective to perform GJB2 and mtDNA 1555A > G mutation analysis for genetic screening for hearing loss in this population. (C) 2011 Elsevier Ireland Ltd. All rights reserved.

语种：

被引次数：

WOS：

PubmedID：

中科院(CAS)分区：

出版当年[2010]版：

大类 | 4 区医学

小类 | 4 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[2009]版：

Q3 PEDIATRICS Q3 OTORHINOLARYNGOLOGY

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 1.148 出版当年[2009版] 1.246 出版当年五年平均 1.118 出版前一年[2008版] 1.067 出版后一年[2010版]

第一作者：

第一作者单位： [2]Huazhong Univ Sci & Technol, Tongji Med Coll, Dept Otolaryngol, Tongji Hosp, Wuhan 430030, 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 Hangkong Rd, Wuhan 430030, Peoples R China

推荐引用方式(GB/T 7714)：

APA：

MLA：

相关文献

[1]Low frequency of GJB2 mutations in thirty-five students with hearing loss in Chinese consanguineous families [2]GJB2 mutations are rare in probands with hearing loss in Chinese assortative mating families [3]Association between the p.V37I variant of GJB2 and hearing loss: a pedigree and meta-analysis [4]Prevalence of A1555G mitochondrial mutation in Chinese newborns and the correlation with neonatal hearing screening [5]Leber's Hereditary Optic Neuropathy with Mitochondrial DNA Mutation G11778A: A Systematic Literature Review and Meta-Analysis [6]NcRNA: key and potential in hearing loss [7]近亲婚配致聋家系中患者GJB2和线粒体DNA 12S rRNA基因突变热点分析 [8]Screening of delayed-onset hearing loss in preschool children in the mid-south of China [9]The audiological characteristics of a hereditary Y-linked hearing loss in a Chinese ethnic Tujia pedigree [10]双侧突发性聋临床特征研究进展