This book is a "how to" manual for the scientist and researcher who is using or planning on using DHPLC technology for genetic variance detection and a potential source of inspiration for those exploring the limits of this novel and powerful technology. It is intended to teach not only the novice, but also the advanced user of DHPLC technology by providing a detailed and enabling account of the underlying fundamentals and a carefully chosen set of specific and innovative applications from the masters.

Hecker, Karl Heinz

Karl Hecker Phd

PhD, Karl Hecker

AceN Press

Nuts & bolts series, Eagleville, PA, c2003

United States, United States of America

July 26, 2003

1, 2003

Includes bibliographical references and index.

Includes bibliographical references and index
Basics of automated, high-accuracy mutation screening with the WAVE Nucleic Acid Fragment Analysis Systems / Karl H. Hecker -- Influence of PCR on DHPLC polymorphism characterization / Michael L. Nickerson -- Denaturing high performance liquid chromatography (DHPLC), an important mutation detection technique in mutation analysis of the breast and ovarian cancer predisposing genes BRCA1 and BRCA2 / Norbert Arnold and Dieter Niederacher -- Mutation detection in the tuberous sclerosis genes TSC1 and TSC2 by DHPLC / Penelope S. Roberts, Sandra L. Dabora, David J. Kwiatkowski -- Rapid analysis to detect base changes in human mitochondrial DNA by restriction enzyme analysis followed by denaturing high performance liquid chromatography / Patricia E. McAndrew and Michael A. Marino -- Mutation analysis of LDLR mutations in patients with familial hypercholesterolaemia / Caroline F. Bunn and Peter M. George -- Novel DHPLC based strategy for identification and characterization of (bi)-clonal T-cell receptor targets for the detection of minimal residual disease in childhood acute lymphoblastic leukemia / Udo zur Stadt ... [et al.] -- SIRPH : a rapid, quantitative SNuPE-IP RP HPLC method for simultaneous methylation analysis at multiple CpG sites / Osman El-Maarri, Johannes Oldenburg and Jörn Walter -- Isolation and sequencing of heteroduplex fragments from DHPCL analysis of somatic, low-frequency mutations / Jan Alsner -- Analysis of promoter methylation using denaturing high-performance liquid chromatography (DHPLC) / Beate Betz and Dieter Niederacher

This work explains the importance and applications of genetic variation detection, a highly sensitive and cost-effective technology used to explore the pivotal relationship of sequence variability and function. A select group of scientists who have adopted this new technology explain the fundamentals of genetic variation detection, as well as some of the innovative applications they have developed themselves. Included are discussions of the influence of PCR on dHPLC polymorphism characterization and mutation analysis of LDLR mutations in patients with familial hypercholesterolaemia

Studies of sequence variation are an integral part of genome research, because of differences in the genomic sequences between individuals.

2023-06-28