Genetic Variance Detection

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ISBN: 9780966402773 | 0966402774
Cover: Paperback
Copyright: 4/1/2004

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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. Book jacket.

SECTION I: Fundamentals of DHPLC

Chapter 1 Basics of automated, high-accuracy mutation screening with the WAVE® Nucleic Acid Fragment Analysis Systems

(20)

Karl H. Hecker

Chapter 2 Influence of PCR on DHPLC Polymorphism Characterization

(18)

Michael L. Nickerson

SECTION II: Gene Specific Applications of Mutation Detection by DHPLC

Chapter 3 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

(26)

Norbert Arnold and Dieter Niederacher

Chapter 4 Mutation detection in the tuberous sclerosis genes TSC1 and TSC2 by DHPLC

(14)

Penelope S. Roberts, Sandra L. Dabora, David J. Kwiatkowski

Chapter 5 Rapid analysis to detect base changes in human mitochondrial DNA by restriction enzyme analysis followed by denaturing high performance liquid chromatography

(24)

Patricia E. McAndrew and Michael A. Marino

Chapter 6 Mutation analysis of LDLR mutations in patients with familial hypercholesterolaemia

117

(20)

Caroline F. Bunn and Peter M. George

SECTION III: Novel and Innovative Applications of DHPLC

Chapter 7 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

137

(14)

Udo zur Stadt, Johannes Rischewski, Conny Eckert, Katharina Michael, Reinhard Schneppenheim, and Hartmut Kabisch

Chapter 8 SIRPH: a rapid, quantitative SNuPE-IP RP HPLC method for simultaneous methylation analysis at multiple CpG sites

151

(12)

Osman El-Maarri, Johannes Oldenburg, and Jörn Walter

Chapter 9 Isolation and sequencing of heteroduplex fragments from DHPLC analysis of somatic, low-frequency mutations

163

(12)

Jan Alsner

Chapter 10 Analysis of promoter methylation using denaturing high-performance liquid chromatography (DHPLC)

175

(12)

Beate Betz and Dieter Niederacher

Index

187

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Genetic Variance Detection

Summary

Table of Contents

Supplemental Materials

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Genetic Variance Detection

Summary

Table of Contents

Supplemental Materials

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