使用变性高效液相色谱法（DHPLC）检测DNA突变。

DNA mutation detection using denaturing high-performance liquid chromatography (DHPLC).

作者信息

Yu Bing, Sawyer Nicole A, Chiu Christine, Oefner Peter J, Underhill Peter A

机构信息

Department of Molecular and Clinical Genetics, Central Clinical School and SUPAMAC The University of Sydney, New South Wales, Australia.

出版信息

Curr Protoc Hum Genet. 2006 Feb;Chapter 7:Unit7.10. doi: 10.1002/0471142905.hg0710s48.

DOI:10.1002/0471142905.hg0710s48

PMID:18428395

Abstract

DHPLC is an efficient method for candidate gene scanning with a high level of automation. Single-base substitutions and insertions or deletions of up to 1.5 kb in PCR amplified DNA fragments can be detected. The method exploits the differential retention of homoduplex and heteroduplex DNA species under conditions of partial thermal denaturation. DHPLC provides a useful platform for high-throughput mutation detection and SNP discovery.

摘要

变性高效液相色谱（DHPLC）是一种高度自动化的候选基因扫描有效方法。可检测PCR扩增DNA片段中的单碱基取代以及长达1.5 kb的插入或缺失。该方法利用了在部分热变性条件下同源双链和异源双链DNA分子的保留差异。DHPLC为高通量突变检测和单核苷酸多态性（SNP）发现提供了一个有用的平台。