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Detection of Cystic Fibrosis Transmembrane Conductance Regulator DeltaF508 Gene Mutation Using a Paper-Based Nucleic Acid Hybridization Assay and a Smartphone Camera

机译：纸质核酸杂交检测和智能手机相机检测囊性纤维化跨膜电导调节剂DeltaF508基因突变

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Diagnostic technology that utilizes paper substrates and device cameras offers opportunities for development of cost effective point-of-care technologies. The translation of assays operating in aqueous solution require further development for implementation in paper substrates. This report presents and compares two methods for determination of oligonucleotides that serve as indicators of Cystic Fibrosis, differentiating wild type and mutant type sequences containing a 3-base deletion. The transduction strategy operates by selective hybridization of dye-labelled oligonucleotides (target or reporters) to capture probes immobilized on quantum dots, and hybridization results in emission of dyes via resonance energy transfer. Detection is based on hybridization of fluorophore labelled target, or hybridization of unlabelled target and labelled reporter in a sandwich assay format. Selectivity to determine mismatched sequences required control of stringency conditions using formamide as a chaotrope. It was determined that both formats can distinguish between wild type and mutant type samples on paper substrates.

机译：利用纸质基材和设备照相机的诊断技术为开发具有成本效益的即时医疗技术提供了机会。在水溶液中操作的分析方法的翻译需要进一步开发，以在纸质基材上实施。该报告介绍并比较了两种确定寡核苷酸的方法，这些寡核苷酸可作为囊性纤维化的指标，区分包含3个碱基缺失的野生型和突变型序列。转导策略是通过染料标记的寡核苷酸（靶标或报道分子）的选择性杂交来捕获固定在量子点上的探针而进行的，杂交导致通过共振能量转移发射出染料。检测基于荧光团标记的靶标杂交，或未标记的靶标与标记的报道分子以夹心测定形式杂交。确定错配序列的选择性要求使用甲酰胺作为离液剂来控制严格条件。已确定两种格式均可区分纸质底物上的野生型和突变型样品。

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作者
Malhotra, Karan.;
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作者单位

University of Toronto (Canada).;

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授予单位 University of Toronto (Canada).;
学科 Analytical chemistry.;Nanotechnology.;Chemistry.
学位 M.Sc.
年度 2018
页码 64 p.
总页数 64
原文格式 PDF
正文语种 eng
中图分类
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专利

1. Detection of cystic fibrosis transmembrane conductance regulator Delta F508 gene mutation using a paper-based nucleic acid hybridization assay and a smartphone camera [J] . Malhotra Karan, Noor M. Omair, Krull Ulrich J. The Analyst: The Analytical Journal of the Royal Society of Chemistry: A Monthly International Publication Dealing with All Branches of Analytical Chemistry . 2018,第13期

机译：一种使用纸核酸杂交测定和智能手机相机检测囊性纤维化跨膜电导调节剂ΔF508基因突变
2. Detection of Large Rearrangements in the Cystic Fibrosis Transmembrane Conductance Regulator Gene by Multiplex Ligation-Dependent Probe Amplification Assay When Sequencing Fails to Detect Two Disease-Causing Mutations [J] . Annika M. Svensson, Lan-Szu Chou, Christine E. Miller, Genetic Testing . 2010,第2期

机译：测序无法检测到两个致病突变时，通过多重连接依赖性探针扩增法检测囊性纤维化跨膜电导调节基因中的重排。
3. Increased NaCl-induced interleukin-8 production by human bronchial epithelial cells is enhanced by the DeltaF508/W1282X mutation of the cystic fibrosis transmembrane conductance regulator gene. [J] . Chan MM, Chmura K, Chan ED Cytokine . 2006,第6期

机译：囊性纤维化跨膜电导调节基因的DeltaF508 / W1282X突变增强了人支气管上皮细胞NaCl诱导的白介素8的产生。
4. Cystic fibrosis transmembrane conductance regulator gene mutations cause 'black' pigment gallstone formation: new insights from mouse models and implications for therapeutic interventions in cystic fibrosis [C] . A. L. BRODERICK, H. WITTENBURG, M. A. LYONS, Falk Symposium . 2004

机译：囊性纤维化跨膜电导调节剂基因突变引起'黑色'颜料胆结石形成：来自小鼠模型的新见解，以及对囊性纤维化治疗干预的影响
5. Protein interaction and cell surface trafficking differences between wild-type and DeltaF508 cystic fibrosis transmembrane conductance regulator. [D] . Goldstein, Rebecca F. 2007

机译：野生型和DeltaF508囊性纤维化跨膜电导调节剂之间的蛋白质相互作用和细胞表面运输差异。
6. Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population. [O] . J Zielenski, T M Fujiwara, D Markiewicz, 1993

机译：鉴定囊性纤维化跨膜电导调节剂（CFTR）基因中的M1101K突变并完整检测Hutterite人群中的囊性纤维化突变。
7. Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population [O] . Tsui LC, Klinger KW, Schwartz RH, 1993

机译：鉴定囊性纤维化跨膜传导调节因子（CFTR）基因中的m1101K突变并完整检测Hutterite人群中的囊性纤维化突变

Detection of Cystic Fibrosis Transmembrane Conductance Regulator DeltaF508 Gene Mutation Using a Paper-Based Nucleic Acid Hybridization Assay and a Smartphone Camera

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