An Introduction to Forensic Genetics E-Book

William Goodwin

• Herausgeber: John Wiley & Sons
• Kategorie: Wissenschaft und neue Technologien
• Serie: Essential Forensic Science
• Sprache: Englisch

Seitenzahl: 341

Veröffentlichungsjahr: 2011

Beschreibung

This is a completely revised edition of a comprehensive and popular introduction to the fast moving area of Forensic Genetics. The text begins with key concepts needed to fully appreciate the subject and moves on to examine the latest developments in the field. Now illustrated in full colour throughout, this accessible textbook includes numerous references to relevant casework. With information on the full process of DNA evidence from collection at the scene of a crime to presentation in a legal context this book provides a complete overview of the field.

Key Features:

• Greater in-depth coverage of kinship problems now covered in two separate chapters: one dealing with relationships between living individuals and the other covering identification of human remains.
• New chapter on non-human forensic genetics, including identification of bacteria and viruses, animals and plants.
• Self assessment questions to aid student understanding throughout the text.
• Now with full colour illustrations throughout
• New companion website
• Accessible introduction to forensic genetics, from the collection of evidence to the presentation of evidence in a legal context.

Included in the Forensic Science Society 'Essentials in Forensic Science' book series. This edition is to be included in the Forensic Science Society 'Essentials of Forensic Science' book series aimed at advanced level undergraduates and new practitioners to the field.

Leseprobe

Contents

Foreword

Preface

Preface to first edition

1 Introduction to forensic genetics

Forensic genetics

A brief history of forensic genetics

2 DNA structure and the genome

DNA structure

Organization of DNA into chromosomes

The structure of the human genome

Genetic diversity of modern humans

The genome and forensic genetics

Tandem repeats

Single nucleotide polymorphisms

WWW resources

3 Biological material -collection, characterization and storage

Sources of biological evidence

Collection and handling of material at the crime scene

Identification and characterization of biological evidence

Evidence collection

Sexual and physical assault

Storage of biological material

4 DNA extraction and quantification

DNA extraction

General principles of DNA extraction

DNA extraction from challenging samples

Quantification of DNA

DNA IQ system

5 Polymerase chain reaction

The evolution of PCR-based profiling in forensic genetics

DNA replication: the basis of the PCR

The components of PCR

Taq DNA polymerase

The PCR process

PCR inhibition

Sensitivity and contamination

The PCR laboratory

6 The analysis of short tandem repeats

Structure of STR loci

The development of STR multiplexes

Detection of STR polymorphisms

Interpretation of STR profiles

7 Assessment of STR profiles

Stutter peaks

Split peaks (±N)

Pull-up

Template DNA

Overloaded profiles

Low template DNA typing

Peak balance

Mixtures

Degraded DNA

PCR inhibition

8 Statistical interpretation of STR profiles

Population genetics

Deviation from the Hardy–Weinberg equilibrium

Statistical tests to determine deviation from the Hardy–Weinberg equilibrium

Estimating the frequencies of STR profiles

Corrections to allele frequency databases

Which population frequency database should be used?

Conclusions

9 Evaluation and presentation of DNA evidence

Hierarchies of propositions

Likelihood ratios

Two fallacies

Comparison of three approaches

10 Databases of DNA profiles

The UK National DNA Database

International situation

11 Kinship testing

Parentage testing

Punnett square

Identification of human remains

12 Single nucleotide polymorphisms

SNPs – occurrence and structure

Detection of SNPs

SNP detection for forensic applications

Forensic applications of SNPs

SNPs compared with STR loci

13 Lineage markers

Mitochondria

Applications of mtDNA profiling

Haplotypes and haplogroups

The Y chromosome

Forensic applications of Y chromosome polymorphisms

14 Non-human DNA typing

Non-human sample types

Species identification

Linkage to an individual using STR loci

Linkage to an individual using mitochondrial loci

Microbial DNA testing

Concluding comments

Appendix A Forensic parameters

Appendix B Useful web links

Glossary

Abbreviations

This edition first published 2011, © 2011 by John Wiley & Sons Ltd

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Library of Congress Cataloguing-in-Publication Data

Goodwin, William, Dr. An introduction to forensic genetics / William Goodwin, Adrian Linacre, Sibte Hadi. - 2nd ed.

p. ; cm.

Includes bibliographical references and index.

ISBN 978-0-470-71018-0 (cloth) - ISBN 978-0-470-71019-7 (pbk.)

1. Forensic genetics. I. Linacre, Adrian. II. Hadi, Sibte. III. Title.

[DNLM: 1. Forensic Genetics-methods. 2. DNA Fingerprinting. 3. Microsatellite Repeats. W 700] RA1057.5.G67 2011

614’.l-dc22

2010033354

A catalogue record for this book is available from the British Library.

This book is published in the following electronic format: ePDF: 978-0-470-97307-3

Foreword

Essentials of forensic science

The world of forensic science is changing at a very fast pace. This is in terms of the provision of forensic science services, the development of technologies and knowledge and the interpretation of analytical and other data as it is applied within forensic practice. Practising forensic scientists are constantly striving to deliver the very best for the judicial process and as such need a reliable and robust knowledge base within their diverse disciplines. It is hoped that this book series will provide a resource by which such knowledge can be underpinned for both students and practitioners of forensic science alike.

The Forensic Science Society is the professional body for forensic practitioners in the United Kingdom. The Society was founded in 1959 and gained professional body status in 2006. The Society is committed to the development of the forensic sciences in all of its many facets, and in particular to the delivery of highly professional and worthwhile publications within these disciplines through ventures such as this book series.

Dr Niamh Nic Daéid

Reader in Forensic Science, University of Strathlcyde, Glasgow, Scotland, UK

UK Series Editor

Preface

It is strange to consider that the use of DNA in forensic science has been with us since 1985 and, although a relatively new discipline, it has impacted greatly on the criminal justice system and society as a whole. It is routinely the case that DNA figures in the media, in both real cases and fictional scenarios. The increased interest in forensic science has led to a burgeoning of university courses with modules in forensic science. This book is aimed at undergraduate students studying courses or modules in Forensic Genetics.

We have attempted to take the reader through the process of DNA profiling from the collection of biological evidence to the evaluation and presentation of genetic evidence. Although each chapter can stand alone, the order of chapters is designed to take the reader through the sequential steps in the generation of a DNA profile. The emphasis is on the use of short tandem repeat (STR) loci in human identification as this is currently the preferred technique. Following on from the process of generating a DNA profile, we have attempted to describe in accessible terms how a DNA profile is interpreted and evaluated. In addition, databases of DNA profiles have been developed in many countries and hence there is need to examine their use. While the focus of the book is on STR analysis, chapters on lineage markers and single nucleotide polymorphisms (SNPs) are also provided. A new Chapter has also been added to this edition that provides an overview of DNA profiling of non-human species.

As the field of forensic science and in particular DNA profiling moves onwards at a rapid pace, there are few introductory texts that cover the current state of this science. We are aware that there is a range of texts available that cover specific aspects of DNA profiling and where there this is the case, we direct readers to these books, papers or websites.

We hope that the readers of this book will gain an appreciation of both the underlying principles and the application of forensic genetics.

Preface to first edition

It is strange to consider that the use of DNA in forensic science has been with us for just over 20 years and, while a relatively new discipline, it has impacted greatly on the criminal justice system and society as a whole. It is routinely the case that DNA figures in the media, in both real cases and fictional scenarios.

The increased interest in forensic science has led to a burgeoning of university courses with modules in forensic science. This book is aimed at undergraduate students studying courses or modules in Forensic Genetics.

We have attempted to take the reader through the process of DNA profiling from the collection of biological evidence to the evaluation and presentation of genetic evidence. While each chapter can stand alone, the order of chapters is designed to take the reader throught the sequential steps in the generation of a DNA profile. The emphasis is on the use of short tandem repeat (STR) loci in human identification as this is currently the preferred technique. Following on from the process of generating a DNA profile, we have attempted to describe in accessible terms how a DNA profile is interpreted and evaluated. Databases of DNA profiles have been developed in many countries and hence there is need to examine their use. While the focus of the book is on STR analysis, chapters on lineage markers and single nucleotide polymorphisms (SNPs) are also provided.

As the field of forensic science and in particular DNA profiling moves onward at a rapid pace, there are few introductory texts that cover the current state of this science. We are aware that there is a range of texts available that cover specific aspects of DNA profiling and where there this is the case, we direct readers to these books, papers or web sites.

We hope that the readers of this book will gain an appreciation of both the underlying principles and application of forensic genetics.

1

Introduction to forensic genetics

The development and application of genetics has revolutionized forensic science. In 1984, the analysis of polymorphic regions of DNA produced what was termed ‘a DNA fingerprint’ [1]. The following year, at the request of the United Kingdom Home Office, DNA profiling was successfully applied to casework when it was used to resolve an immigration dispute [2]. In 1986, DNA evidence was used for the first time in a criminal case involving the murder of two young women in Leicestershire, UK: DNA analysis exonerated one individual who had confessed to one of the murders, and following a mass screen of approximately 5000 individuals, identified Colin Pitchfork as the murderer. He was convicted in January 1988 [3].1

Following on from early success in both civil and criminal cases, the use of genetics was rapidly adopted by the forensic community and now plays an important role worldwide in both the investigation of crime and in relationship testing. The scope and scale of DNA analysis in forensic science is set to continue expanding for the foreseeable future.

Forensic genetics

The work of the forensic geneticist will vary widely depending on the laboratory and country that they work in, and can involve the analysis of material recovered from a scene of crime, kinship testing and the identification of human remains. In some cases, it can even be used for the analysis of DNA from plants [6–18]; animals [19–36] including insects [37–60]; and microorganisms [61–67]. The focus of this book is the analysis of biological material that is recovered from the scene of crime – this is central to the work of most forensic laboratories. Kinship testing will be dealt with separately in Chapter 11 and a brief introduction is given to the testing of non-human material in Chapter 14.

Forensic laboratories receive material that has been recovered from scenes of crime, and reference samples from both suspects and victims. The role of forensic genetics within the investigative process is to compare samples recovered from crime scenes with suspects and possibly victims, resulting in a report that can be presented in court or intelligence that may inform an investigation ().