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An Introduction to Forensic Genetics

ISBN: 978-0-470-01025-9
162 pages
November 2007
An Introduction to Forensic Genetics (0470010258) cover image

Description

An Introduction to Forensic Genetics is a comprehensive introduction to this fast moving area from the collection of evidence at the scene of a crime to the presentation of that evidence in a legal context. The last few years have seen significant advances in the subject and the development and application of genetics has revolutionised forensic science.

This book begins with the key concepts needed to fully appreciate the subject and moves on to examine the latest developments in the field, illustrated throughout with references to relevant casework. In addition to the technology involved in generating a DNA profile, the underlying population biology and statistical interpretation are also covered. The evaluation and presentation of DNA evidence in court is discussed as well with guidance on the evaluation process and how court reports and statements should be presented.

  • An accessible introduction to Forensic Genetics from the collection of evidence to the presentation of that evidence in a legal context
  • Includes case studies to enhance student understanding
  • Includes the latest developments in the field focusing on the technology used today and that which is likely to be used in the future
  • Accessible treatment of population biology and statistics associated with forensic evidence

This book offers undergraduate students of Forensic Science an accessible approach to the subject that will have direct relevance to their courses. An Introduction to Forensic Genetics is also an invaluable resource for postgraduates and practising forensic scientists looking for a good introduction to the field.

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Table of Contents

Preface ix

About the Authors x

1 Introduction to forensic genetics 1

Forensic genetics 1

A brief history of forensic genetics 2

References 5

2 DNA structure and the genome 7

DNA structure 7

Organization of DNA into chromosomes 7

The structure of the human genome 9

Genetic diversity of modern humans 11

The genome and forensic genetics 11

Tandem repeats 12

Single nucleotide polymorphisms (SNPs) 13

Further reading 14

References 14

3 Biological material – collection, characterization and storage 17

Sources of biological evidence 17

Collection and handling of material at the crime scene 19

Identification and characterization of biological evidence 19

Evidence collection 20

Sexual and physical assault 21

Presumptive testing 21

Storage of biological material 23

References 24

4 DNA extraction and quantification 27

DNA extraction 27

General principles of DNA extraction 27

DNA extraction from challenging samples 30

Quantification of DNA 32

DNA IQTM system 36

References 36

5 The polymerase chain reaction 39

The evolution of PCR-based profiling in forensic genetics 39

DNA replication – the basis of the PCR 40

The components of PCR 40

The PCR process 42

PCR inhibition 44

Sensitivity and contamination 45

The PCR laboratory 46

Further reading 48

References 48

6 The analysis of short tandem repeats 51

Structure of STR loci 51

The development of STR multiplexes 51

Detection of STR polymorphisms 54

Interpretation of STR profiles 56

Further reading 61

References 61

7 Assessment of STR profiles 65

Stutter peaks 65

Split peaks (+/−A) 65

Pull-up 67

Template DNA 68

Overloaded profiles 68

Low copy number DNA 68

Peak balance 70

Mixtures 70

Degraded DNA 71

References 73

8 Statistical interpretation of STR profiles 75

Population genetics 75

Deviation from the Hardy–Weinberg equilibrium 76

Statistical tests to determine deviation from the Hardy–Weinberg equilibrium 77

Estimating the frequencies of STR profiles 78

Corrections to allele frequency databases 78

Which population frequency database should be used? 83

Conclusions 83

Further reading 84

References 84

9 The evaluation and presentation of DNA evidence 87

Hierarchies of propositions 87

Likelihood ratios 89

Two fallacies 93

Comparison of three approaches 94

Further reading 95

References 95

10 Databases of DNA profiles 97

The UK National DNA database (NDNAD) 97

International situation 102

References 104

11 Kinship testing 105

Paternity testing 105

Identification of human remains 111

Further reading 112

References 112

12 Single nucleotide polymorphisms 115

SNPs – occurrence and structure 115

Detection of SNPs 115

SNP detection for forensic applications 117

Forensic applications of SNPs 119

SNPs compared to STR loci 120

Further reading 121

References 121

13 Lineage markers 125

Mitochondria 125

Applications of mtDNA profiling 127

The Y chromosome 130

Forensic applications of Y chromosome polymorphisms 131

Further reading 132

References 133

Appendix 1 Forensic parameters 137

Appendix 2 Useful web links 139

Glossary 141

Abbreviations 145

Index 147

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Author Information

William Goodwin is a Senior Lecturer in the Department of Forensic and Investigative Science at the University of Central Lancashire where his main teaching areas are molecular biology and its application to forensic analysis. Prior to this he worked for eight years at the Department of Forensic Medicine and Science in the Human Identification Centre where hewas involved in a number of international cases involving the identifications of individuals from air crashes and from clandestine graves. His research has focused on the analysis of DNA from archaeological samples and highly compromised human remains. He has acted as an expert witness and also as a consultant for international humanitarian organisations and forensic service providers.

Adrian Linacre is a Senior Lecturer at the Centre for Forensic Science at the University of Strathclyde where his main areas of teaching are aspects of forensic biology, population genetics and human identification. His research areas include the use of non-human DNA in forensic science and the mechanisms behind the transfer and persistence of DNA at crime scenes. He has published over 50 papers in international journals, has presented at a number of international conferences and is on the editorial board of Forensic Science International: Genetics. Dr Linacre works as an assessor for the Council for the Registration of Forensic Practitioners (CRFP) in the area of human contact traces and is a Registered Practitioner.

Sibte Hadi is a Senior Lecturer in the Department of Forensic and Investigative Science at the University of Central Lancashire. His main teaching areas are Forensic Medicine and DNA profiling. He is a physician by training and practised forensic pathology for a number of years in Pakistan before undertaking a PhD in Forensic Genetics. Following this he worked at the Department of Molecular Biology Louisiana State University as a member of the Louisiana Healthy Aging Study group. He has acted as a consultant to forensic service providers in the USA and Pakistan. His current research is focused on population genetics, DNA databases and gene expression studies for different forensic applications.

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The Wiley Advantage

  • An accessible introduction to DNA profiling from the collection of evidence to the presentation of that evidence in a legal context
  • Includes numerous case studies to enhance student understanding
  • Includes all the latest developments in the field focusing on the technology used today and that which is likely to be used in the future
  • Accessible treatment of population biology and statistics associated with forensic evidence
See More

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