• 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

The c.IVS1+1G>A mutation in the GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population.

作者信息

Sirmaci Asli, Akcayoz-Duman Duygu, Tekin Mustafa

机构信息

Division of Pediatric Molecular Genetics, Ankara University School of Medicine, Ankara 06100, Turkey.

出版信息

J Genet. 2006 Dec;85(3):213-6. doi: 10.1007/BF02935334.

DOI:10.1007/BF02935334
PMID:17406097
Abstract
摘要

相似文献

1
The c.IVS1+1G>A mutation in the GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population.GJB2基因中的c.IVS1+1G>A突变很常见，且土耳其人群中不存在涉及GJB6基因的大片段缺失。
J Genet. 2006 Dec;85(3):213-6. doi: 10.1007/BF02935334.
2
First report of prevalence c.IVS1+1G>A and del (GJB6-13S1854) mutations in Syrian families with non-syndromic sensorineural hearing loss.叙利亚非综合征性感音神经性听力损失家庭中c.IVS1+1G>A和del (GJB6-13S1854) 突变患病率的首次报告。
Int J Pediatr Otorhinolaryngol. 2017 Jan;92:82-87. doi: 10.1016/j.ijporl.2016.11.015. Epub 2016 Nov 15.
3
Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.阿根廷非综合征性耳聋儿童中DFNB1突变的患病率。GJB2基因新突变的报告。
Int J Pediatr Otorhinolaryngol. 2010 Mar;74(3):250-4. doi: 10.1016/j.ijporl.2009.11.014. Epub 2009 Dec 22.
4
Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss.斯洛伐克非综合征性听力损失患者中DFNB1突变的患病率。
Int J Pediatr Otorhinolaryngol. 2012 Mar;76(3):400-3. doi: 10.1016/j.ijporl.2011.12.020. Epub 2012 Jan 26.
5
Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss.对坎帕尼亚地区感音神经性听力损失患者的 GJB2 和 GJB6 基因突变进行筛查。
Int J Audiol. 2010 Apr;49(4):326-31. doi: 10.3109/14992021003601756.
6
Frequency of GJB2 mutations, GJB6-D13S1830 and GJB6-D13S1854 deletions among patients with non-syndromic hearing loss from the central region of Iran.伊朗中部地区非综合征型听力损失患者中 GJB2 突变、GJB6-D13S1830 和 GJB6-D13S1854 缺失的频率。
Mol Genet Genomic Med. 2019 Jul;7(7):e00780. doi: 10.1002/mgg3.780. Epub 2019 Jun 4.
7
Prevalence of Connexin 26 (GJB2) and Pendred (SLC26A4) mutations in a population of adult cochlear implant candidates.成人人工耳蜗植入候选人群中Connexin 26（GJB2）和Pendred（SLC26A4）突变的流行率。
Otol Neurotol. 2010 Aug;31(6):919-22. doi: 10.1097/MAO.0b013e3181e3d324.
8
The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas.锡瓦斯地区遗传性非综合征性听力损失患者GJB2、GJB3和GJB6基因突变分析
J Int Adv Otol. 2019 Dec;15(3):373-378. doi: 10.5152/iao.2019.5401.
9
Double heterozygosity with mutations involving both the GJB2 and GJB6 genes is a possible, but very rare, cause of congenital deafness in the Czech population.涉及GJB2和GJB6基因的双杂合突变是捷克人群先天性耳聋的一种可能但非常罕见的病因。
Ann Hum Genet. 2005 Jan;69(Pt 1):9-14. doi: 10.1046/j.1529-8817.2003.00120.x.
10
[Pseudodominants of two recessive connexin mutations in non-syndromic sensorineural hearing loss?].[非综合征性感音神经性听力损失中两个隐性连接蛋白突变的假显性现象？]
Laryngorhinootologie. 2006 Mar;85(3):191-6. doi: 10.1055/s-2005-870302.

引用本文的文献

1
Genotype-phenotype analysis of hearing function in patients with DFNB1A caused by the c.-23+1G>A splice site variant of the GJB2 gene (Cx26).GJB2 基因 c.-23+1G>A 剪接位点变异导致的 DFNB1A 型耳聋患者的听力功能表型-基因型分析（Cx26）。
PLoS One. 2024 Oct 22;19(10):e0309439. doi: 10.1371/journal.pone.0309439. eCollection 2024.
2
The (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia).贝加尔湖地区（俄罗斯）听力障碍患者的（Cx26）基因突变。
Genes (Basel). 2023 Apr 28;14(5):1001. doi: 10.3390/genes14051001.
3
Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment.

本文引用的文献

1
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.在患有DFNB1非综合征性听力障碍的受试者中发现一种涉及连接蛋白30基因的新型缺失，即del(GJB6-d13s1854)，它与GJB2基因（连接蛋白26）的突变呈反式排列。
J Med Genet. 2005 Jul;42(7):588-94. doi: 10.1136/jmg.2004.028324.
2
GJB2 mutations: passage through Iran.GJB2基因突变：穿越伊朗。
Am J Med Genet A. 2005 Mar 1;133A(2):132-7. doi: 10.1002/ajmg.a.30576.
3
Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations.
全球与非综合征性听力障碍相关的致病变异的分布。
Genes (Basel). 2023 Feb 3;14(2):399. doi: 10.3390/genes14020399.
4
Evaluation of the and Polymorphisms with Autosomal Recessive Nonsyndromic Hearing Loss in Iranian Population.伊朗人群中与常染色体隐性非综合征性听力损失相关的[具体基因]和[具体基因]多态性评估
Iran J Otorhinolaryngol. 2021 Mar;33(115):79-86. doi: 10.22038/ijorl.2020.45196.2483.
5
Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.与非综合征性听力损失相关的连接蛋白基因变异：全球负担的系统评价
Life (Basel). 2020 Oct 28;10(11):258. doi: 10.3390/life10110258.
6
High Rates of Three Common Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect.来自西伯利亚南部的聋病患者中常见的三种突变 c.516G>C、c.-23+1G>A 和 c.235delC 的高发生率归因于创始效应。
Genes (Basel). 2020 Jul 21;11(7):833. doi: 10.3390/genes11070833.
7
Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families.大片断缺失 GJB6-D13S1830 和 GJB6-D13S1834 分析：多重家系中分子检测结果解读的注意事项。
Mol Genet Genomic Med. 2020 Apr;8(4):e1171. doi: 10.1002/mgg3.1171. Epub 2020 Feb 17.
8
The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas.锡瓦斯地区遗传性非综合征性听力损失患者GJB2、GJB3和GJB6基因突变分析
J Int Adv Otol. 2019 Dec;15(3):373-378. doi: 10.5152/iao.2019.5401.
9
Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population.遗传性听力障碍的遗传流行病学及临床特征在台湾人群中的表现。
Genes (Basel). 2019 Oct 1;10(10):772. doi: 10.3390/genes10100772.
10
Unique Mutational Spectrum of the Gene and its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys).俄罗斯图瓦人（南西伯利亚）耳聋相关基因的独特突变谱及其致病性：罕见变异 c.516G>C（p.Trp172Cys）的高发生率。
Genes (Basel). 2019 Jun 5;10(6):429. doi: 10.3390/genes10060429.
荷兰携带连接蛋白26（GJB2）和连接蛋白30（GJB6）突变患者的听力障碍
Int J Pediatr Otorhinolaryngol. 2005 Feb;69(2):165-74. doi: 10.1016/j.ijporl.2004.08.015.
4
Double heterozygosity with mutations involving both the GJB2 and GJB6 genes is a possible, but very rare, cause of congenital deafness in the Czech population.涉及GJB2和GJB6基因的双杂合突变是捷克人群先天性耳聋的一种可能但非常罕见的病因。
Ann Hum Genet. 2005 Jan;69(Pt 1):9-14. doi: 10.1046/j.1529-8817.2003.00120.x.
5
Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia.
Clin Genet. 2005 Jan;67(1):31-7. doi: 10.1111/j.1399-0004.2004.00334.x.
6
Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6.GJB2基因c.35delG和涉及GJB6基因的342kb缺失均为杂合子的患者非综合征性听力损失的表型变异性
Hear Res. 2004 Feb;188(1-2):42-6. doi: 10.1016/S0378-5955(03)00346-0.
7
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.听力受损受试者中DFNB1位点del(GJB6-D13S1830)突变的患病率及进化起源：一项多中心研究
Am J Hum Genet. 2003 Dec;73(6):1452-8. doi: 10.1086/380205. Epub 2003 Oct 21.
8
The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria.来自奥地利的非综合征性听力损失患者不存在GJB6基因中的342 kb缺失。
Hum Mutat. 2003 Aug;22(2):180. doi: 10.1002/humu.9167.
9
Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss.土耳其常染色体隐性非综合征性听力损失家族中缝隙连接和紧密连接突变的频率。
Clin Genet. 2003 Jul;64(1):65-9. doi: 10.1034/j.1399-0004.2003.00101.x.
10
Connexin 26 35delG does not represent a mutational hotspot.连接蛋白26基因35delG并非突变热点。
Hum Genet. 2003 Jul;113(1):18-23. doi: 10.1007/s00439-003-0944-2. Epub 2003 Apr 9.