• 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

以肌阵挛性癫痫伴破碎红纤维病（MERRF）为例，通过错配PCR鉴定点突变。

Identification of point mutations by mispairing PCR as exemplified in MERRF disease.

作者信息

Seibel P, Degoul F, Romero N, Marsac C, Kadenbach B

机构信息

Fachbereich Chemie der Philipps-Universität, Marburg, FRG.

出版信息

Biochem Biophys Res Commun. 1990 Dec 14;173(2):561-5. doi: 10.1016/s0006-291x(05)80071-3.

DOI:10.1016/s0006-291x(05)80071-3
PMID:2124485
Abstract

The point mutation in the tRNA(Lys) gene of mitochondrial DNA (mtDNA) from patients with myoclonic epilepsy and ragged red fibers (MERRF) was quantitatively analyzed after digestion with the restriction endonuclease Nae I of the PCR amplified DNA. Since the point mutation is not part of a restriction site for a commonly available restriction endonuclease, the Nae I restriction site was introduced by PCR using a mispairing primer. The percentage of mutated mtDNA was determined in a few hairs of five members of an affected family by counting the radioactivity of the fragments after PCR amplification with labelled dATP.

摘要

在用PCR扩增的DNA经限制性内切酶Nae I消化后，对肌阵挛性癫痫伴蓬毛样红纤维病（MERRF）患者线粒体DNA（mtDNA）的tRNA（Lys）基因中的点突变进行了定量分析。由于该点突变不是常用限制性内切酶的酶切位点的一部分，因此使用错配引物通过PCR引入Nae I酶切位点。通过用标记的dATP进行PCR扩增后，通过计数片段的放射性，测定了一个患病家族五名成员的几根毛发中突变mtDNA的百分比。

相似文献

1
Identification of point mutations by mispairing PCR as exemplified in MERRF disease.以肌阵挛性癫痫伴破碎红纤维病（MERRF）为例，通过错配PCR鉴定点突变。
Biochem Biophys Res Commun. 1990 Dec 14;173(2):561-5. doi: 10.1016/s0006-291x(05)80071-3.
2
Simple detection of tRNA(Lys) mutation in myoclonus epilepsy associated with ragged-red fibers (MERRF) by polymerase chain reaction with a mismatched primer.采用错配引物聚合酶链反应对肌阵挛性癫痫伴蓬毛样红纤维病（MERRF）中tRNA（Lys）突变进行简易检测。
Neurology. 1991 Nov;41(11):1838-40. doi: 10.1212/wnl.41.11.1838.
3
Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).意大利肌阵挛性癫痫伴蓬毛样红纤维（MERRF）家系中线粒体DNA A----G(8344)突变的快速检测
Am J Hum Genet. 1991 Feb;48(2):203-11.
4
A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).与肌阵挛性癫痫伴蓬毛样红纤维（MERRF）相关的tRNA（Lys）基因中的一种新的线粒体DNA突变。
Am J Hum Genet. 1992 Dec;51(6):1213-7.
5
Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF).一种家族性线粒体脑肌病（肌阵挛性癫痫伴破碎红纤维病，MERRF）的遗传、生化及病理生理学特征
J Neurol Sci. 1991 Oct;105(2):217-24. doi: 10.1016/0022-510x(91)90148-z.
6
Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.肌阵挛性癫痫伴蓬毛样红纤维（MERRF）综合征的线粒体DNA tRNA（Lys）A→G（8344）突变的分离与表现
Am J Hum Genet. 1992 Dec;51(6):1201-12.
7
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation.肌阵挛性癫痫伴蓬毛样红纤维病（MERRF）与线粒体DNA 赖氨酸转运RNA（tRNA<sup>Lys</sup>）突变有关。
Cell. 1990 Jun 15;61(6):931-7. doi: 10.1016/0092-8674(90)90059-n.
8
A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene.一种与线粒体DNA赖氨酸转运RNA基因新的点突变相关的肌阵挛性癫痫伴破碎红纤维/线粒体脑肌病伴乳酸血症和卒中样发作重叠综合征
Eur J Hum Genet. 1993;1(1):80-7. doi: 10.1159/000472390.
9
A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.线粒体DNA中的一种tRNA（赖氨酸）突变是肌阵挛性癫痫伴蓬毛样红纤维（MERRF）综合征的致病遗传损伤。
Am J Hum Genet. 1991 Oct;49(4):715-22.
10
Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF patients.对患有肌阵挛性癫痫伴破碎红纤维病（MERRF）患者中携带tRNALys突变的线粒体DNA进行定量分析。
Biochem Biophys Res Commun. 1991 Sep 16;179(2):880-5. doi: 10.1016/0006-291x(91)91900-w.

引用本文的文献

1
Dual-site ligation-assisted loop-mediated isothermal amplification (dLig-LAMP) for colorimetric and point-of-care determination of real SARS-CoV-2.双位点连接辅助环介导等温扩增（dLig-LAMP）用于实时 SARS-CoV-2 的比色和即时检测。
Mikrochim Acta. 2022 Apr 5;189(5):176. doi: 10.1007/s00604-022-05293-7.
2
G×G×E for lifespan in Drosophila: mitochondrial, nuclear, and dietary interactions that modify longevity.果蝇寿命的基因×基因×环境互作：影响寿命的线粒体、细胞核及饮食相互作用
PLoS Genet. 2014 May 15;10(5):e1004354. doi: 10.1371/journal.pgen.1004354. eCollection 2014.
3
Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position 8344 nt.
细胞色素c氧化酶动力学缺陷以及成纤维细胞和细胞质杂交细胞中线粒体膜电位的改变，这些细胞在8344 nt位置存在伴有破碎红纤维的肌阵挛性癫痫（“MERRF”）突变。
Biochem J. 1999 Sep 15;342 Pt 3(Pt 3):537-44.
4
Evidence that specific mtDNA point mutations may not accumulate in skeletal muscle during normal human aging.有证据表明，在正常人类衰老过程中，特定的线粒体DNA点突变可能不会在骨骼肌中积累。
Am J Hum Genet. 1996 Sep;59(3):591-602.
5
X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder.X连锁肌阵挛性癫痫被解释为一种母系遗传的线粒体疾病。
Hum Genet. 1993 Mar;91(1):51-4. doi: 10.1007/BF00230222.
6
Transfection of mitochondria: strategy towards a gene therapy of mitochondrial DNA diseases.线粒体转染：线粒体DNA疾病基因治疗的策略
Nucleic Acids Res. 1995 Jan 11;23(1):10-7. doi: 10.1093/nar/23.1.10.
7
Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases.线粒体tRNA基因的突变：神经肌肉疾病的常见病因。
Nucleic Acids Res. 1991 Apr 11;19(7):1393-7. doi: 10.1093/nar/19.7.1393.
8
Mitochondrial tRNA(Thr) mutations and lethal infantile mitochondrial myopathy.线粒体tRNA（苏氨酸）突变与致死性婴儿线粒体肌病
Am J Hum Genet. 1992 Aug;51(2):446-7.
9
The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.线粒体脑肌病、乳酸酸中毒和卒中样发作（MELAS）中的线粒体tRNA（Leu（UUR））突变：骨骼肌中的遗传、生化及形态学关联
Am J Hum Genet. 1992 May;50(5):934-49.