An Introduction to Forensic Genetics, 2nd Edition (Essential Forensic Science)

214 Pages·2011·1.7 MB·English

by  William Goodwin

An Introduction to Forensic Genetics

An Introduction to Forensic
Genetics
Second Edition
William Goodwin
University of Central Lancashire, Preston, Lancashire, England, UK
Adrian Linacre
Flinders University, Adelaide, South Australia, Australia
Sibte Hadi
University of Central Lancashire, Preston, Lancashire, England, UK
A John Wiley & Sons, Ltd., Publication
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LibraryofCongressCataloguing-in-PublicationData
Goodwin,William,Dr.
Anintroductiontoforensicgenetics/WilliamGoodwin,AdrianLinacre,SibteHadi. – 2nded.
p.;cm.
Includesbibliographicalreferencesandindex.
ISBN978-0-470-71018-0(cloth) – ISBN978-0-470-71019-7(pbk.)
1.Forensicgenetics.I.Linacre,Adrian.II.Hadi,Sibte.III.Title.
[DNLM:1.ForensicGenetics–methods.2.DNAFingerprinting.3.MicrosatelliteRepeats.W700]
RA1057.5.G672011
614(cid:1).1–dc22
2010033354
AcataloguerecordforthisbookisavailablefromtheBritishLibrary.
Thisbookispublishedinthefollowingelectronicformat:ePDF:978-0-470-97307-3
Setin10.5/12.5TimesbyLaserwordsPrivateLimited,Chennai,India
FirstImpression 2011
Contents
Foreword ix
Preface xi
Prefacetofirstedition xiii
1 Introduction toforensic genetics 1
Forensicgenetics 1
Abriefhistory offorensicgenetics 2
References 6
2 DNAstructure andthegenome 11
DNAstructure 11
OrganizationofDNAintochromosomes 11
Thestructure ofthe humangenome 13
Geneticdiversity ofmodernhumans 15
Thegenomeandforensicgenetics 16
Tandemrepeats 16
Singlenucleotide polymorphisms 18
References 19
3 Biologicalmaterial –collection,characterization andstorage 21
Sourcesofbiologicalevidence 21
Collectionandhandlingofmaterialatthecrime scene 23
Identification andcharacterizationofbiologicalevidence 23
Evidencecollection 29
Sexualandphysicalassault 31
Storageofbiologicalmaterial 32
References 32
4 DNAextractionandquantification 37
DNAextraction 37
GeneralprinciplesofDNAextraction 37
DNAextractionfrom challengingsamples 41
Quantification ofDNA 45
DNAIQsystem 48
References 49
vi CONTENTS
5 Polymerase chainreaction 53
TheevolutionofPCR-basedprofilinginforensicgenetics 53
DNAreplication:the basisofthePCR 54
ThecomponentsofPCR 54
TaqDNApolymerase 54
ThePCRprocess 56
PCRinhibition 58
Sensitivityandcontamination 60
ThePCRlaboratory 60
Furtherreading 62
References 62
6 Theanalysisofshorttandemrepeats 67
Structure ofSTRloci 67
ThedevelopmentofSTRmultiplexes 67
DetectionofSTRpolymorphisms 70
Interpretation ofSTRprofiles 72
Furtherreading 77
References 77
7 AssessmentofSTRprofiles 81
Stutter peaks 81
Splitpeaks(±N) 81
Pull-up 83
TemplateDNA 84
Overloadedprofiles 84
Lowtemplate DNAtyping 84
Peakbalance 86
Mixtures 86
DegradedDNA 88
PCRinhibition 90
References 91
8 Statisticalinterpretation ofSTRprofiles 95
Populationgenetics 95
Deviationfrom theHardy–Weinberg equilibrium 96
Statistical teststodetermine deviationfrom theHardy–Weinberg
equilibrium 97
EstimatingthefrequenciesofSTRprofiles 98
Corrections toallelefrequencydatabases 98
Whichpopulationfrequencydatabaseshouldbeused? 103
Conclusions 104
Furtherreading 104
References 104
CONTENTS vii
9 Evaluationandpresentation ofDNAevidence 107
Hierarchies ofpropositions 107
Likelihoodratios 109
Twofallacies 113
Comparisonofthree approaches 114
Furtherreading 115
References 115
10 DatabasesofDNAprofiles 117
TheUKNational DNADatabase 117
International situation 124
Furtherreading 128
References 128
11 Kinshiptesting 131
Parentagetesting 131
Punnettsquare 132
Identification ofhumanremains 139
Furtherreading 140
References 140
12 Singlenucleotidepolymorphisms 145
SNPs–occurrenceandstructure 145
DetectionofSNPs 146
SNPdetectionforforensicapplications 148
ForensicapplicationsofSNPs 149
SNPscomparedwithSTRloci 150
References 152
13 Lineagemarkers 155
Mitochondria 155
Applications ofmtDNAprofiling 157
Haplotypesandhaplogroups 159
TheYchromosome 161
ForensicapplicationsofYchromosomepolymorphisms 162
Furtherreading 165
References 165
14 Non-humanDNAtyping 171
Non-humansampletypes 171
Speciesidentification 173
LinkagetoanindividualusingSTRloci 174
Linkagetoanindividualusingmitochondrialloci 175
MicrobialDNAtesting 176
viii CONTENTS
Concludingcomments 176
Furtherreading 176
References 176
Appendix A Forensic parameters 181
Appendix B Usefulweblinks 183
Glossary 185
Abbreviations 189
Index 193