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用于突变检测和基因分型的变性高效液相色谱法。

Denaturing high-performance liquid chromatography for mutation detection and genotyping.

作者信息

Fackenthal Donna Lee, Chen Pei Xian, Das Soma

机构信息

Department of Human Genetics, The University of Chicago, Chicago, IL, USA.

出版信息

Methods Mol Biol. 2005;311:73-96. doi: 10.1385/1-59259-957-5:073.

Abstract

Denaturing high-performance liquid chromatography (DHPLC) is an accurate and efficient screening technique used for detecting deoxyribonucleic acid sequence changes by heteroduplex analysis. It can also be used for genotyping of single-nucleotide polymorphisms. The high-sensitivity of DHPLC has made this technique one of the most reliable approaches to mutation analysis and is used in various areas of genetics, both in the research and clinical arena. This chapter describes the methods used for mutation detection analysis and the genotyping of single-nucleotide polymorphisms by DHPLC on the WAVETM system from Transgenomic Inc.

摘要

变性高效液相色谱法(DHPLC)是一种准确且高效的筛查技术,通过异源双链分析用于检测脱氧核糖核酸序列变化。它还可用于单核苷酸多态性的基因分型。DHPLC的高灵敏度使其成为突变分析最可靠的方法之一,并在遗传学的各个领域中得到应用,包括研究和临床领域。本章介绍了使用Transgenomic公司的WAVETM系统通过DHPLC进行突变检测分析和单核苷酸多态性基因分型的方法。

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