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Preface |
ix |
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About the Authors |
x |
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1 |
Introduction to Forensic Genetics |
1 |
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Forensic Genetics |
1 |
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A Brief History of
Forensic Genetics |
2 |
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References |
5 |
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2 |
DNA Structure and the Genome |
7 |
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DNA Structure |
7 |
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Organization of DNA
into Chromosomes |
7 |
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The Structure of the
Human Genome |
9 |
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Genetic Diversity of
Modern Humans |
11 |
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The Genome and
Forensic Genetics |
11 |
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Tandem Repeats |
12 |
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Single Nucleotide
Polymorphisms (SNPs) |
13 |
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Further |
14 |
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References |
14 |
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3 |
Biological Material - Collection,
Characterization and Storage |
17 |
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Sources of
Biological Evidence |
17 |
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Collection and
Handling of Material at the Crime Scene |
19 |
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Identification and
Characterization of Biological Evidence |
19 |
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Evidence Collection |
20 |
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Sexual and Physical
Assault |
21 |
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Presumptive Testing |
21 |
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Storage of Biological
Material |
23 |
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References |
24 |
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4 |
DNA Extraction and Quantification |
27 |
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DNA Extraction |
27 |
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General Principles
of DNA Extraction |
27 |
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DNA Extraction from
Challenging Samples |
30 |
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Quantification of
DNA |
32 |
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DNA 10™ System |
36 |
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References |
36 |
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5 |
The Polymerase Chain Reaction |
39 |
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The Evolution of
PCR-Based Profiling in Forensic Genetics |
39 |
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DNA Replication -
The Basis of the PCR |
40 |
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The Components of
PCR |
40 |
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The PCR Process |
42 |
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PCR Inhibition |
44 |
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Sensitivity and
Contamination |
45 |
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The PCR Laboratory |
46 |
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Further |
48 |
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References |
48 |
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6 |
The Analysis of Short Tandem Repeats |
51 |
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Structure of STR
Loci |
51 |
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The Development of
STR Multiplexes |
51 |
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Detection of STR
Polymorphisms |
54 |
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Interpretation of
STR Profiles |
56 |
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Further |
61 |
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References |
61 |
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7 |
Assessment of STR Profiles |
65 |
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65 |
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65 |
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Pull-Up |
67 |
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Template DNA |
68 |
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Overloaded Profiles |
68 |
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Low Copy Number DNA |
68 |
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Peak Balance |
70 |
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Mixtures |
70 |
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Degraded DNA |
71 |
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References |
73 |
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8 |
Statistical Interpretation of STR
Profiles |
75 |
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Population Genetics |
75 |
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Deviation from the
Hardy-Weinberg Equilibrium |
76 |
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Statistical Tests to
Determine Deviation from the Hardy-Weinberg Equilibrium |
77 |
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Estimating the Frequencies
of STR Profiles |
78 |
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Corrections to
Allele Frequency Databases |
78 |
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Which Population
Frequency Database should be Used? |
83 |
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Conclusions |
83 |
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Further |
84 |
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References |
84 |
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9 |
The Evaluation and Presentation of
DNA Evidence |
87 |
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Hierarchies of
Propositions |
87 |
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Likelihood Ratios |
89 |
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Two Fallacies |
93 |
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Comparison of Three
Approaches |
94 |
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Further |
95 |
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References |
95 |
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10 |
Databases of DNA Profiles |
97 |
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The |
97 |
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International
Situation |
102 |
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References |
104 |
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11 |
Kinship Testing |
105 |
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Paternity Testing |
105 |
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Identification of
Human Remains |
111 |
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Further |
112 |
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References |
112 |
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12 |
Single Nucleotide Polymorphisms |
115 |
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SNPs - Occurrence and
Structure |
115 |
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Detection of SNPs |
115 |
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SNP Detection for
Forensic Applications |
117 |
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Forensic
Applications of SNPs |
119 |
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SNPs Compared to STR
Loci |
120 |
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Further |
121 |
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References |
121 |
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13 |
Lineage Markers |
125 |
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Mitochondria |
125 |
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Applications of mtDNA Profiling |
127 |
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The Y Chromosome |
130 |
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Forensic
Applications of Y Chromosome Polymorphisms |
131 |
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Further |
132 |
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References |
133 |
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Appendix 1 |
Forensic Parameters |
137 |
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Appendix 2 |
Useful Web Links |
139 |
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Glossary |
141 |
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Abbreviations |
145 |
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Index |
147 |
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