Contents

Preface ix

List of Contributors xi

1 Current and Future Trends in Forensic Molecular Biology 1

Simon J. Walsh

1.1 Introduction 1

1.2 Developments within the field of forensic molecular biology 2

1.3 Developments influencing law enforcement - operational impacts

1.4 Developments influencing the justice system - socio-legal impacts 10

1.5 Summary 11

1.6 References 12

2 Basic Tools and Techniques in Molecular Biology 21

Ralph Rapley and David Whitehouse

2.1 Introduction 21

2.2 Isolation and separation of nucleic acids 21

2.3 Automated analysis of nucleic acid fragments 23

2.4 Molecular biology and bioinformatics 24

2.5 The polymerase chain reaction (PCR) 25

2.6 Applications of the PCR 28

2.7 Nucleotide sequencing of DNA 30

2.8 Conclusion 34

2.9 References 34

3 Automated DNA Extraction Techniques for Forensic Analysis 37

Marion Nagy

3.1 Introduction 37

3.2 Principal steps of DNA extraction 38

3.3 DNA extraction techniques 39

3.4 Modified techniques for DNA extraction from challenging forensic samples 43

3.5 Automation of DNA extraction 45

3.6 References 56

4 Real-time Quantitative PCR in Forensic Science 59

Antonio Alonso and Oscar García

4.1 Introduction 59

4.2 Current real-time PCR chemistries 60

4.3 Human nuclear DNA quantification 61

4.4 Human mitochondrial DNA quantification 65

4.5 Detection and quantification of non-human species 66

4.6 Concluding remarks and perspectives 67

4.7 References 67

5 Minisatellite and Microsatellite DNA Typing Analysis 71

Keiji Tamaki

5.1 Introduction 71

5.2 Minisatellites 71

5.3 Microsatellites 80

5.4 Acknowledgements 86

5.5 References 86

6 Application of SNPs in Forensic Casework 91

Claus B0rsting, Juan J. Sanchez and Niels Morling

6.1 Introduction 91

6.2 Single nucleotide polymorphisms 92

6.3 Single nucleotide polymorphism typing technology 94

6.4 Single nucleotide polymorphisms for human identification 95

6.5 Single nucleotide polymorphisms in mitochondrial DNA 98

6.6 Forensic DNA phenotyping 98

6.7 Ethical considerations of SNP genotyping 100

6.8 References 100

7 The X Chromosome in Forensic Science: Past, Present and Future 103

Reinhard Szibor

7.1 Introduction 103

7.2 History of forensic utilization of the X chromosome 104

7.3 Chromosome X short tandem repeats 107

7.4 Power of ChrX markers in trace analysis 111

7.5 Power of ChrX markers in kinship testing 111

7.6 Chromosome X marker mapping and haplotype analysis 114

7.7 Chromosome X-chromosome Y homologue markers 119

7.8 Chromosome X STR allele and haplotype distribution in different populations 119

7.9 Ethical considerations in ChrX marker testing 120

7.10 Concluding remarks 121

7.11 References 121

8 Mitochondrial Analysis in Forensic Science 127

Hirokazu Matsuda and Nobuhiro Yukawa

8.1 Introduction 127

8.2 Mitochondrial DNA (mtDNA) biology 128

8.3 Identification of individuals (mtDNA typing) 132

8.4 Topics of forensic interest 134

8.5 References 138

9 Y-Chromosomal Markers in Forensic Genetics 141

Manfred Kayser

9.1 Introduction 141

9.2 Identification of the male sex 142

9.3 Identification of male lineages 143

9.4 Identification of a male's paternity 148

9.5 Identification of a male's geographical origin 151

9.6 The future of Y-chromosomal markers in forensics 155

9.7 Acknowledgements 156

9.8 References 157

10 Laser Microdissection in Forensic Science 163

Luigi Saravo, Davide Di Martino, Nicola Staiti, Carlo Romano, Enrico Di Luise, Dario Piscitello, Salvatore Spitaleri, Ernesto Ginestra, Ignazio Ciuna, Fabio Quadrana, Beniamino Leo, Giuseppe Giuffrè and Giovanni Tuccari

10.1 Introduction 163

10.2 Histological, biochemical analysis 166

10.3 References 169

11 Laboratory Information Systems for Forensic Analysis of

DNA Evidence 171

Benoît Leclair and Tom Scholl

11.1 Introduction 171

11.2 The specifications of forensic genotyping assays 173

11.3 Automated pipetting 174

11.4 Analysis of STR data 176

11.5 Bioinformatics 178

11.6 Conclusion 180

11.7 References 181

12 Statistical Presentation of Forensic Data 185

Mark A. Best

12.1 Introduction 185

12.2 Techniques 185

12.3 Laboratory issues 188

12.4 Statistical analysis 189

12.5 Other issues 193

12.6 Special situations 194

12.7 References 195

13 Protein Profiling for Forensic and Biometric Applications 197

Mikhail Soloviev, Julian Bailes, Nina Salata and Paul Finch

13.1 Introduction 197

13.2 Protein assays in molecular forensics: current status 197

13.3 Novel technologies and the remaining challenges 204

13.4 Protein markers for use in forensic and biometric applications 208

13.5 References 217

14 Application of MRS in Forensic Pathology 221

Eva Scheurer, Michael Ith and Chris Boesch

14.1 Forensic, criminalistic and ethical significance of time of death 221

14.2 Classical methods for the determination of PMI 222

14.3 Magnetic resonance spectroscopy 224

14.4 How to predict PMI based on MRS measurements 229

14.5 Outlook 232

14.6 References 235

Index

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