• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

[Mitochondrial DNA A1555G mutation analysis in 802 nonsyndromic hearing impairment patients].

作者信息

Liu Xiao-wen, Guo Yu-fen, Han Dong-yi, Zhao Ya-li, Lan Lan, Zhao Cui, Wang Qiu-ju

机构信息

Department of Otorhinolaryngology Head Neck Surgery, Second Hospital of Lanzhou University, Lanzhou 730030, China.

出版信息

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2007 Oct;42(10):739-42.

PMID:18229583
Abstract

OBJECTIVE

To investigate the prevalence of the mitochondrial DNA (mtDNA) A1555G mutation in nonsyndromic hearing impairment (NSHI) patients from Gansu province.

METHODS

Subjects included 802 students selected from five Deaf-Mute Schools in Gansu. DNA was extracted from peripheral blood of all patients. The mitochondrial DNA target fragments were amplified by polymerase chain reaction (PCR). The Mutations were detected by AIw26I digestion and sequence analysis.

RESULTS

The homoplasmic A1555G mutation was found in 67 individuals from 802 patients (8.4%). Fifteen of these 67 patients had family histories.

CONCLUSIONS

The mtDNA A1555G mutation had a higher incidence in Gansu population with nonsyndromic hearing impairment than other studies. The data not only gaven more evidences that the prevalence of mtDNA A1555G mutation in china was higher than that in Europe and America, but also gaven valuable information for gene diagnosis, genetic counseling and would improve the safety of aminoglycoside antibiotic therapy.

摘要

相似文献

1
[Mitochondrial DNA A1555G mutation analysis in 802 nonsyndromic hearing impairment patients].
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2007 Oct;42(10):739-42.
2
[Analysis of mtDNA 12SrRNA A1555G mutations of Uigur patients with nonsyndromic hereditary hearing loss in Xinjiang].
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2010 May;24(10):439-41, 446.
3
Analysis of the ratio of mitchondrial DNA with A1555G mutant to wild type in deaf patients of Fujian province in China by a new method and its relationship with the severity of hearing loss.采用新方法分析中国福建省聋病患者线粒体 DNA A1555G 突变与野生型的比例及其与听力损失严重程度的关系。
Chin Med J (Engl). 2011 Oct;124(20):3347-52.
4
Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation.携带与耳聋相关的12S rRNA A1555G突变的七个汉族家系中听力损失的极低外显率。
Gene. 2007 May 15;393(1-2):11-9. doi: 10.1016/j.gene.2007.01.001. Epub 2007 Jan 24.
5
[Prevalence of common genetic mutations and clinical characteristics analysis in patients at different ages with nonsyndromic hearing impairment].[不同年龄非综合征性听力障碍患者常见基因突变患病率及临床特征分析]
Yi Chuan. 2013 Mar;35(3):352-8. doi: 10.3724/sp.j.1005.2013.00352.
6
GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects.中国北方人群语前聋患者中GJB2、SLC26A4及线粒体DNA A1555G突变情况
Acta Otolaryngol. 2008 Mar;128(3):297-303. doi: 10.1080/00016480701767382.
7
Audiological and genetic features of the mtDNA mutations.线粒体DNA突变的听力学和遗传学特征。
Acta Otolaryngol. 2008 Jul;128(7):732-8. doi: 10.1080/00016480701719011.
8
[Study of mtDNA 12S rRNA A1555G, GJB2, GJB3 gene mutation in Uighur and Han people with hereditary nonsyndromic hearing loss in Xinjiang].[新疆维吾尔族和汉族遗传性非综合征性听力损失患者线粒体DNA 12S rRNA A1555G、GJB2、GJB3基因突变研究]
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2010 Aug;45(8):645-51.
9
[Mitochondrial DNA A1555G mutation of seven families with nonsyndromic hearing loss].七个非综合征性听力损失家族的线粒体DNA A1555G突变
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Oct;26(5):550-4. doi: 10.3760/cma.j.issn.1003-9406.2009.05.017.
10
[Large-scale screening of mtDNA A1555G mutation in China and its significance in prevention of aminoglycoside antibiotic induced deafness].[中国线粒体DNA A1555G突变的大规模筛查及其在预防氨基糖苷类抗生素致聋中的意义]
Zhonghua Yi Xue Za Zhi. 2006 May 23;86(19):1318-22.