Mutation Detection

Cancer and the mechanisms of its development are receiving increasing research interest. New genes are being isolated almost daily, Fundamental to those studies is the ability to detect mutations. Mutation detection is time consuming and expensive and thus, should be undertaken with a thorough knowledge of the alternative methods. This book aims to critically review the field, refer to methodology and protocols and give illustrative examples as well as put the whole emerging field in context including ethics.

Table of Contents:
1: Introduction 2: Sequencing Methods 3: Scanning Methods 3.1: Physical Methods 3.1.1: Denaturing Gradient Gel Electrophoresis 3.1.2: Single Strand Conformational Polymorphism 3.1.3: Heteroduplex 3.2: Mismatch Detection/Cleavage 3.2.1: Ribonuclease 3.2.2: Chemical Cleavage 3.2.3: Carbodiimide 3.2.3: DNA endonucleases and binding proteins 3.3: Other 4.1: Allele Specific Oligonucleotide 4.2: Ligase and LCR 4.3: Allele Specific Amplification 4.4: Primer Extension 4.5: Artificial Introduction of Restriction Sites 4.6: Restriction Enzymes 5: Associated Methodology 5.1: Southern Blots 5.2: PCR n 5.3.Illegitimate Transcription 5.4: Gene Specific Strategies 6: Current Weaknesses and Future Requirements

Review :
`very comprehensive book ... The text is well referenced and includes useful examples in which the techniques have been employed successfully. The guidance given on the choice of technique and strategies to be adopted is very helpful. The layout of the book makes it a very clear and user friendly reference text. It is up to date, with brief descriptions of emerging technqiues.' Ann Curtis, TIG November 1997 Vol. 13 No. 11 `an elegant and balanced account of mutation detection, setting the subject in a truly academic format ... Both the historical developments and basic principles are brought together in a clear and very thorough way, and the presentation should empower the reader to 'go away and think for himself' ... The detail given is considerable, and the author has structured the chaos of developments into as comprehensive overview ... this is an outstanding little book' Ian Day, UCLMS, Epidemiology & Infection, Vol. 119, 1997 `Cotton's book is an elegant and balanced account of mutation detection, setting the subject in a truly academic format. Both the historical developments and basic principles are brought together in a clear and very thorough way, and the presentation should empower the reader to 'go away and think for himself'. The detail given is considerable, and the author has structured the chaos of developments into a comprehensive overview ... this is an outstanding little book.' I. Day, UCLMS, Annals of Human Genetics, Vol. 61, 1997 `With its readable format that summarizes and yet still offers practical directions, this book provides an excellent window into the complex array of new molecular diagnostics for human diseases. The introduction is clearly written. ... this book will not be redundant in the near future ... this book contains materials that would normally be scattered among different experts and diverse journals, but which are handily addressed in one slim readable volume.' Linda Surh, Annals of the Royal College of Phsycians and Surgeons of Canada, vol. 31, no. 2, March 1998 `'...This book is written by Richard Cotton, editor of Human Mutation, one of the fastest growing olecular biolgoy journals, so his credentials are well proven...the introductory chapter is short and concise, and also packed with useful tables...The next five chapters are a concise and in depth account of the main methods used, covering: sequencing methods, scanning methods, diagnostic methods, associated techniques and strategies for mutation detection...MD or PhD students undertaking research involving molecular genetic techniques will find this book is an excellent starter.'' Patrick J Morrison, Ulster Medical Society `'There can be few authors better placed to write such a book than Professor Cotton...This volume is a comprehensive source for references and background on the most widely used (and a few of more esoteric) mutation detection methods and is a useful introdution to the topic.'' GR Taylor, St James's University Hospital