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Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation.

作者信息

López-Bigas N, Rabionet R, Martinez E, Bravo O, Girons J, Borragan A, Pellicer M, Arbonés M L, Estivill X

出版信息

Am J Hum Genet. 2000 Apr;66(4):1465-7. doi: 10.1086/302870.

DOI:10.1086/302870
PMID:10739773
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1288216/
Abstract
摘要

相似文献

1
Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation.线粒体tRNA Ser(UCN) 和GJB2（连接蛋白26）基因的突变，并非西班牙12S rRNA A1555G突变型听力损失患者发病年龄或听力损失严重程度的修饰因素。
Am J Hum Genet. 2000 Apr;66(4):1465-7. doi: 10.1086/302870.
2
[Incidence of A1555G mutations in the mitochondrial DNA and 35delG in the GJB2 gene (connexin-26) in families with late onset non-syndromic sensorineural hearing loss from Cantabria].[坎塔布里亚迟发性非综合征性感音神经性听力损失家族中线粒体DNA的A1555G突变及GJB2基因（连接蛋白26）的35delG突变的发生率]
Acta Otorrinolaringol Esp. 2002 Oct;53(8):563-71. doi: 10.1016/s0001-6519(02)78349-0.
3
Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss.
Hum Mutat. 2002 Oct;20(4):312-20. doi: 10.1002/humu.10127.
4
Co-segregation of the T1095C with the A1555G mutation of the mitochondrial 12S rRNA gene in a patient with non-syndromic hearing loss.一名非综合征性听力损失患者中线粒体12S rRNA基因的T1095C与A1555G突变的共分离。
Biochem Biophys Res Commun. 2008 Dec 26;377(4):1152-5. doi: 10.1016/j.bbrc.2008.10.132. Epub 2008 Nov 5.
5
Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss.非综合征性听力损失儿科患者线粒体12S rRNA和tRNASer(UCN)基因的分子分析。
J Med Genet. 2004 Aug;41(8):615-20. doi: 10.1136/jmg.2004.020230.
6
The contribution of the mitochondrial COI/tRNA(Ser(UCN)) gene mutations to non-syndromic and aminoglycoside-induced hearing loss in Polish patients.线粒体 COI/tRNA(Ser(UCN))基因突变在波兰患者中非综合征型和氨基糖苷类诱导性耳聋中的作用。
Mol Genet Metab. 2011 Sep-Oct;104(1-2):153-9. doi: 10.1016/j.ymgme.2011.05.004. Epub 2011 May 13.
7
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.
8
Molecular epidemiological analysis of mitochondrial DNA12SrRNA A1555G, GJB2, and SLC26A4 mutations in sporadic outpatients with nonsyndromic sensorineural hearing loss in China.中国散发性非综合征性感音神经性听力损失门诊患者线粒体DNA 12SrRNA A1555G、GJB2和SLC26A4基因突变的分子流行病学分析
Acta Otolaryngol. 2011 Feb;131(2):124-9. doi: 10.3109/00016489.2010.483479. Epub 2010 Dec 16.
9
Prevalence of mitochondrial DNA mutations in sporadic patients with nonsyndromic sensorineural hearing loss.散发型非综合征性感音神经性听力损失患者线粒体DNA突变的患病率
Braz J Otorhinolaryngol. 2016 Jul-Aug;82(4):391-6. doi: 10.1016/j.bjorl.2015.06.006. Epub 2015 Nov 5.
10
Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family.一个中国家系中与线粒体12S rRNA A827G突变相关的母系遗传非综合征性听力损失
Biochem Biophys Res Commun. 2006 Jun 16;344(4):1253-7. doi: 10.1016/j.bbrc.2006.04.033. Epub 2006 May 2.

引用本文的文献

1
High prevalence of m.1555A > G in patients with hearing loss in the Baikal Lake region of Russia as a result of founder effect.由于奠基者效应，俄罗斯贝加尔湖地区听力损失患者中 m.1555A > G 的高发率。
Sci Rep. 2024 Jul 3;14(1):15342. doi: 10.1038/s41598-024-66254-z.

本文引用的文献

1
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.欧洲人群中35delG耳聋突变的高携带频率。GJB2 35delG基因分析联盟。
Eur J Hum Genet. 2000 Jan;8(1):19-23. doi: 10.1038/sj.ejhg.5200406.
2
Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia.来自蒙古的聋哑学生中，线粒体tRNA Ser(UCN)前体的异质性点突变与A1555G突变共存。
Am J Hum Genet. 1999 Dec;65(6):1803-6. doi: 10.1086/302658.
3
The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness.人类线粒体DNA 12S rRNA基因中的A1555G突变：感音神经性耳聋家族中的反复起源和奠基者事件。
Am J Hum Genet. 1999 Nov;65(5):1349-58. doi: 10.1086/302642.
4
Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 (GJB2) gene.连接蛋白26（GJB2）基因常见耳聋突变35delG的等位基因特异性寡核苷酸分析。
J Med Genet. 1999 Mar;36(3):260-1.
5
Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation.
Am J Med Genet. 1998 Jun 5;77(5):421-6. doi: 10.1002/(sici)1096-8628(19980605)77:5<421::aid-ajmg13>3.0.co;2-k.
6
Connexin 26 gene linked to a dominant deafness.连接蛋白26基因与显性耳聋相关。
Nature. 1998 May 28;393(6683):319-20. doi: 10.1038/30639.
7
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides.家族性进行性感音神经性聋主要由线粒体DNA A1555G突变引起，并因氨基糖苷类药物治疗而加重。
Am J Hum Genet. 1998 Jan;62(1):27-35. doi: 10.1086/301676.
8
Connexin-26 mutations in sporadic and inherited sensorineural deafness.散发性和遗传性感音神经性聋中的连接蛋白26突变
Lancet. 1998 Feb 7;351(9100):394-8. doi: 10.1016/S0140-6736(97)11124-2.
9
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.与地中海地区最常见的非综合征性神经感觉常染色体隐性耳聋（DFNB1）相关的连接蛋白26突变。
Hum Mol Genet. 1997 Sep;6(9):1605-9. doi: 10.1093/hmg/6.9.1605.
10
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.遗传性非综合征性感音神经性聋中的连接蛋白26突变
Nature. 1997 May 1;387(6628):80-3. doi: 10.1038/387080a0.