A Simple PCR Test to Detect the Common 35delG Mutation in the Connexin 26 Gene

STEPHEN A. WILCOX; AMELIA H. OSBORN; HANS-HENRIK M. DAHL

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A Simple PCR Test to Detect the Common 35delG Mutation in the Connexin 26 Gene

机译：检测连接蛋白 26 基因中常见 35delG 突变的简单 PCR 检测

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Background:The most common form of nonsyndromic neurosensory autosomal recessive deafness, DFNB1, is caused by mutations in the connexin 26 gene (GJB2) on chromosome 13. One mutation, in which one guanosine (G) residue is deleted from a run of 6 Gs (35delG), is found in 40percnt; to 70percnt; of DFNB1 cases and has an expected population frequency of one in 40 to one in 100.Methods and Results:Polymerase chain reaction (PCR)-based tests for the 35delG mutation were developed. They are based on mismatched PCR primers that produce novelEcoRII orDdeI restriction enzyme sites depending on the number of Gs at the 35delG locus. AnEcoRII site is generated in the wild-type sequence (6 Gs), but not when the 35delG mutation is present. Alternatively, aDdeI site can be generated so that this enzyme cuts the PCR product when the 35delG mutation is present, but not the wild-type sequence.Conclusions:These tests enable a quick and reliable screen for the common 35delG mutation.

机译：背景：最常见的非综合征神经感觉常染色体隐性遗传性耳聋 DFNB1 是由 13 号染色体上的连接蛋白 26 基因（GJB2）突变引起的。在 40% 至 70% 的 DFNB1 病例中发现了一种突变，其中 6 个 Gs （35delG）的运行中去除了一个鸟苷（G）残基，并且预期的群体频率为 1/40 到 1/100.方法和结果：开发了基于聚合酶链反应（PCR）的 35delG 突变测试。它们基于错配的PCR引物，根据35delG位点的G数量产生新的EcoRII或DdeI限制性内切酶位点。AnEcoRII 位点在野生型序列（6 Gs）中生成，但在存在 35delG 突变时不会生成。或者，可以生成aDdeI位点，以便当存在35delG突变时，该酶会切割PCR产物，但不会切割野生型序列。结论：这些测试能够快速可靠地筛查常见的 35delG 突变。

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《molecular diagnosis》 |2000年第1期|75-78|共页
作者
STEPHEN A. WILCOX; AMELIA H. OSBORN; HANS-HENRIK M. DAHL;
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正文语种英语
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deafness, 35delG, connexin 26,GJB2, 35delG mutation, PCR test.;

机译：耳聋;35delG;连接蛋白26;GJB2,35delG突变;PCR检测。;

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1. Hearing loss associated with 35delG mutation in Connexin-26 (GJB2) gene: audiogram analysis. [J] . Salvinelli F, Casale M, DAscanio LFirrisi LGreco FBaldi A The Journal of Laryngology and Otology . 2004,第1期

机译：Hearing loss associated with 35delG mutation in Connexin-26 (GJB2) gene: audiogram analysis.
2. Multiplex Tetra-Primer Amplification Refractory Mutation System PCR to Detect 6 Common Germline Mutations of the MUTYH Gene Associated with Polyposis and Colorectal Cancer [J] . Fabrizio Loiacono, Liliana Varesco, Lucio BertarioMaria De AngiolettiMartina SerraPatrizia PiccioliRosario NotaroSimona PedemonteSonia LastraioliViviana Gismondi Clinical Chemistry . 2006,第4期

机译：Multiplex Tetra-Primer Amplification Refractory Mutation System PCR to Detect 6 Common Germline Mutations of the MUTYH Gene Associated with Polyposis and Colorectal Cancer
3. Four Common Mutations of the Cystathionine β-Synthase Gene Detected by Multiplex PCR and Matrix-assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry [J] . Angela Harksen, Helga Refsum, Klaus MeyerPer Magne Ueland Clinical Chemistry . 1999,第8期

机译：Four Common Mutations of the Cystathionine β-Synthase Gene Detected by Multiplex PCR and Matrix-assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry
4. A polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) test to detect the common mutation (35delG) in the connexin-26 gene [O] . Mehmet Simsek, Nadia Al-Wardy, Mazin Al-Khabory 2001

机译：聚合酶链反应-限制性片段长度多态性（PCR-RFLP）测试以检测连接蛋白26基因中的常见突变（35delG）
5. SCREENING OF THE CONNEXIN 26 (35DELG) MUTATION IN EGYPTIAN PATIENTS WITH AUTOSOMAL RECESSIVE NONSYNDROMIC DEAFNESS AND ITS RELATION TO THE PATIENTS' IQ [O] . ELHAM GABER, G. ABO EL FATH, M. KHALIL, 2018

机译：埃及急染色体隐性不健康耳聋患者的Connexin 26（35delG）突变筛选及其与患者IQ的关系

A Simple PCR Test to Detect the Common 35delG Mutation in the Connexin 26 Gene

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