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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, Howe Ted, Das Soma

机构信息

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

出版信息

Methods Mol Biol. 2013;1015:25-54. doi: 10.1007/978-1-62703-435-7_2.

DOI:10.1007/978-1-62703-435-7_2
PMID:23824847
Abstract

Denaturing high-performance liquid chromatography (DHPLC) is an accurate and efficient screening technique used for detecting DNA sequence changes by heteroduplex analysis. It can also be used for genotyping of single nucleotide polymorphisms (SNPs). The high sensitivity of DHPLC has made this technique one of the most reliable approaches to mutation analysis and, therefore, 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 SNPs by DHPLC on the WAVE™ system from Transgenomic Inc. ("WAVE" and "DNASep" are registered trademarks, and "Navigator" is a trademark, of Transgenomic, used with permission. All other trademarks are property of the respective owners).

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DNA序列变化。它还可用于单核苷酸多态性(SNP)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,因此在遗传学的各个领域,包括研究和临床领域都有应用。本章介绍了在Transgenomic公司的WAVE™系统上使用DHPLC进行突变检测分析和SNP基因分型的方法(“WAVE”和“DNASep”是Transgenomic公司的注册商标,“Navigator”是其商标,经许可使用。所有其他商标均为各自所有者的财产)。

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