An Introduction to Forensic Genetics

An Introduction to Forensic Genetics......Page 5
Contents......Page 7
Foreword......Page 11
Preface......Page 13
Preface to first edition......Page 15
Forensic genetics......Page 17
A brief history of forensic genetics......Page 18
References......Page 22
Organization of DNA into chromosomes......Page 27
The structure of the human genome......Page 29
Genetic diversity of modern humans......Page 31
Tandem repeats......Page 32
Single nucleotide polymorphisms......Page 34
References......Page 35
Sources of biological evidence......Page 37
Identification and characterization of biological evidence......Page 39
Evidence collection......Page 45
Sexual and physical assault......Page 47
References......Page 48
General principles of DNA extraction......Page 53
DNA extraction from challenging samples......Page 57
Quantification of DNA......Page 61
DNA IQ system......Page 64
References......Page 65
The evolution of PCR-based profiling in forensic genetics......Page 69
Taq DNA polymerase......Page 70
The PCR process......Page 72
PCR inhibition......Page 74
The PCR laboratory......Page 76
References......Page 78
The development of STR multiplexes......Page 83
Detection of STR polymorphisms......Page 86
Interpretation of STR profiles......Page 88
References......Page 93
Split peaks (±N)......Page 97
Pull-up......Page 99
Low template DNA typing......Page 100
Mixtures......Page 102
Degraded DNA......Page 104
PCR inhibition......Page 106
References......Page 107
Population genetics......Page 111
Deviation from the Hardy–Weinberg equilibrium......Page 112
Statistical tests to determine deviation from the Hardy–Weinberg equilibrium......Page 113
Corrections to allele frequency databases......Page 114
Which population frequency database should be used?......Page 119
References......Page 120
Hierarchies of propositions......Page 123
Likelihood ratios......Page 125
Two fallacies......Page 129
Comparison of three approaches......Page 130
References......Page 131
The UK National DNA Database......Page 133
International situation......Page 140
References......Page 144
Parentage testing......Page 147
Punnett square......Page 148
Identification of human remains......Page 155
References......Page 156
SNPs – occurrence and structure......Page 161
Detection of SNPs......Page 162
SNP detection for forensic applications......Page 164
Forensic applications of SNPs......Page 165
SNPs compared with STR loci......Page 166
References......Page 168
Mitochondria......Page 171
Applications of mtDNA profiling......Page 173
Haplotypes and haplogroups......Page 175
The Y chromosome......Page 177
Forensic applications of Y chromosome polymorphisms......Page 178
References......Page 181
Non-human sample types......Page 187
Species identification......Page 189
Linkage to an individual using STR loci......Page 190
Linkage to an individual using mitochondrial loci......Page 191
References......Page 192
Appendix A Forensic parameters......Page 197
Appendix B Useful web links......Page 199
Glossary......Page 201
Abbreviations......Page 205
Index......Page 209