Forensic DNA Typing (eBook)

Biology, Technology, and Genetics of STR Markers

John M. Butler (Autor)

eBook Download: PDF

2005 | 2. Auflage
688 Seiten
Elsevier Science (Verlag)
978-0-08-047061-0 (ISBN)

Infos

Forensic DNA Typing, Second Edition, is the only book available that specifically covers detailed information on mitochondrial DNA and the Y chromosome. It examines the science of current forensic DNA typing methods by focusing on the biology, technology, and genetic interpretation of short tandem repeat (STR) markers, which encompass the most common forensic DNA analysis methods used today.

The book covers topics from introductory level right up to cutting edge research. High-profile cases are addressed throughout the text, near the sections dealing with the science or issues behind these cases. Ten new chapters have been added to accommodate the explosion of new information since the turn of the century. These additional chapters cover statistical genetic analysis of DNA data, an emerging field of interest to DNA research. Several chapters on statistical analysis of short tandem repeat (STR) typing data have been contributed by Dr. George Carmody, a well-respected professor in forensic genetics. Specific examples make the concepts of population genetics more understandable.

This book will be of interest to researchers and practitioners in forensic DNA analysis, forensic scientists, population geneticists, military and private and public forensic laboratories (for identifying individuals through remains), and students of forensic science.

*The only book available that specifically covers detailed information on mitochondrial DNA and the Y chromosome
*Chapters cover the topic from introductory level right up to 'cutting edge' research
*High-profile cases are addressed throughout the book, near the sections dealing with the science or issues behind these cases
*NEW TO THIS EDITION: D.N.A. Boxes--boxed 'Data, Notes & Applications' sections throughout the book offer higher levels of detail on specific questions

John M. Butler is a NIST Fellow and Special Assistant to the Director for Forensic Science, Office of Special Programs, at the U.S. National Institute of Standards and Technology, in Gaithersburg, Maryland. Dr. Butler earned his PhD from the University of Virginia while doing DNA research in the FBI Laboratory's Forensic Science Research Unit. He has won numerous scientific awards, including being named Science Watch's #1 world-wide high-impact author in legal medicine and forensic science over the last decade (July 2011). He has over 150 publications in this field and is a frequent presenter on the topic of DNA typing, and has authored four other DNA Typing books including Advanced Topics in Forensic DNA Typing: Methodology. For a detailed CV, visit http://www.cstl.nist.gov/strbase/butler.htm.

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Forensic DNA Typing, Second Edition, is the only book available that specifically covers detailed information on mitochondrial DNA and the Y chromosome. It examines the science of current forensic DNA typing methods by focusing on the biology, technology, and genetic interpretation of short tandem repeat (STR) markers, which encompass the most common forensic DNA analysis methods used today. The book covers topics from introductory level right up to cutting edge research. High-profile cases are addressed throughout the text, near the sections dealing with the science or issues behind these cases. Ten new chapters have been added to accommodate the explosion of new information since the turn of the century. These additional chapters cover statistical genetic analysis of DNA data, an emerging field of interest to DNA research. Several chapters on statistical analysis of short tandem repeat (STR) typing data have been contributed by Dr. George Carmody, a well-respected professor in forensic genetics. Specific examples make the concepts of population genetics more understandable. This book will be of interest to researchers and practitioners in forensic DNA analysis, forensic scientists, population geneticists, military and private and public forensic laboratories (for identifying individuals through remains), and students of forensic science. *The only book available that specifically covers detailed information on mitochondrial DNA and the Y chromosome*Chapters cover the topic from introductory level right up to "e;cutting edge"e; research*High-profile cases are addressed throughout the book, near the sections dealing with the science or issues behind these cases*NEW TO THIS EDITION: D.N.A. Boxes--boxed "e;Data, Notes & Applications"e; sections throughout the book offer higher levels of detail on specific questions

Inhalt

Cover 1
CONTENTS 6
FOREWORD 8
INTRODUCTION 10
NEW MATERIAL IN THIS SECOND EDITION 11
AN OVERVIEW OF THE BOOK CHAPTERS 12
ACKNOWLEDGMENTS 16
ABOUT THE AUTHOR 17
1. OVERVIEW AND HISTORY OF DNA TYPING 20
HISTORY OF FORENSIC DNA ANALYSIS 21
STEPS IN DNA SAMPLE PROCESSING 25
COMPARISONS TO COMPUTER TECHNOLOGY 29
BIOLOGY 34
2. DNA BIOLOGY REVIEW 36
BASIC DNA PRINCIPLES 36
POPULATION VARIATION 45
ADDITIONAL READING 50
3. SAMPLE COLLECTION, DNA EXTRACTION AND DNA QUANTITATION 52
SAMPLE COLLECTION 52
PRESUMPTIVE TESTS FOR BLOOD, SEMEN, AND SALIVA 58
DNA EXTRACTION 61
DNA QUANTITATION 69
REFERENCES AND ADDITIONAL READING 75
POLYMERASE CHAIN REACTION ( PCR) PROCESS 82
4. THE POLYMERASE CHAIN REACTION (DNA AMPLIFICATION) 82
MULTIPLEX PCR 92
REAL- TIME ( QUANTITATIVE) PCR 94
PRECAUTIONS AGAINST CONTAMINATION 98
ADVANTAGES AND DISADVANTAGES OF PCR WITH FORENSIC SPECIMENS 99
REFERENCES AND ADDITIONAL READING 100
REPEATED DNA 104
5. COMMONLY USED SHORT TANDEM REPEAT MARKERS AND COMMERCIAL KITS 104
CHOICE OF MARKERS USED BY THE FORENSIC DNA 112
TYPING COMMUNITY 112
COMMERCIALLY AVAILABLE STR KITS 116
DETAILS ON ALLELES PRESENT IN THE 13 CODIS STR LOCI 125
GENDER IDENTIFICATION WITH AMELOGENIN 132
STRBASE: A DYNAMIC SOURCE OF INFORMATION ON STR MARKERS 134
REFERENCES AND ADDITIONAL READING 136
STUTTER PRODUCTS 142
6. BIOLOGY OF STRs: STUTTER PRODUCTS, NON-TEMPLATE ADDITION, MICROVARIANTS, NULL ALLELES AND MUTATION RATES 142
NON- TEMPLATE ADDITION 146
MICROVARIANTS AND 'OFF- LADDER' ALLELES 148
ALLELE DROPOUT AND NULL ALLELES 152
MUTATIONS AND MUTATION RATES 157
REFERENCES AND ADDITIONAL READING 161
DEGRADED DNA 164
7. FORENSIC ISSUES: DEGRADED DNA, PCR INHIBITION, CONTAMINATION, MIXED SAMPLES AND LOW COPY NUMBER 164
PCR INHIBITION 169
CONTAMINATION ISSUES 171
MIXTURES 173
LOW- COPY NUMBER DNA TESTING 186
OTHER USES FOR STR TYPING 189
REFERENCES AND ADDITIONAL READING 193
ROLE OF ADDITIONAL GENETIC MARKERS IN FORENSIC SCIENCE 200
8. SINGLE NUCLEOTIDE POLYMORPHISMS AND OTHER BI-ALLELIC MARKERS 200
BASICS OF SINGLE NUCLEOTIDE POLYMORPHISMS (SNPs) 201
SNP TYPING ASSAYS AND TECHNOLOGIES 203
POTENTIAL APPLICATIONS FOR SNPs IN HUMAN IDENTITY TESTING 207
OTHER BI- ALLELIC MARKERS 211
POINTS FOR DISCUSSION 213
REFERENCES AND ADDITIONAL READING 213
9. Y CHROMOSOME DNA TESTING 220
LINEAGE MARKERS 220
VALUE OF Y CHROMOSOME ANALYSIS IN HUMAN IDENTITY TESTING 220
Y CHROMOSOME STRUCTURE 223
Y- STR MARKERS 225
ISSUES WITH USE OF Y- STRs IN FORENSIC CASEWORK 239
Y- SNP AND BI- ALLELIC MARKERS 241
HISTORICAL AND GENEALOGICAL STUDIES WITH THE Y CHROMOSOME 242
THE THOMAS JEFFERSON- SALLY HEMINGS AFFAIR 243
SURNAME TESTING AND GENETIC GENEALOGY 249
POINTS FOR DISCUSSION 251
REFERENCES AND ADDITIONAL READING 251
10. MITOCHONDRIAL DNA ANALYSIS 260
CHARACTERISTICS OF MITOCHONDRIAL DNA 260
MITOCHONDRIAL DNA SEQUENCING IN FORENSIC CASEWORK 274
INTERPRETING AND REPORTING mtDNA RESULTS 285
LABORATORIES PERFORMING mtDNA TESTING IN THE UNITED STATES 291
ISSUES IMPACTING INTERPRETATION 292
SCREENING ASSAYS FOR mtDNA TYPING 297
POPULATION DATABASES 300
FUTURE DIRECTIONS IN mtDNA RESEARCH 303
REFERENCES AND ADDITIONAL READING 307
11. NON-HUMAN DNA TESTING AND MICROBIAL FORENSICS 318
DOMESTIC ANIMAL DNA TESTING 318
PLANT DNA 322
MICROBIAL FORENSICS 324
REFERENCES AND ADDITIONAL READING 325
TECHNOLOGY 330
INTRODUCTION 332
12. DNA SEPARATION METHODS: SLAB GEL AND CAPILLARY ELECTROPHORESIS 332
SLAB GELS 333
CAPILLARY ELECTROPHORESIS 337
DNA SEPARATION MECHANISMS 340
ADDITIONAL COMMENTS ON ELECTROPHETIC SEPARATIONS 341
ADDITIONAL READING 342
13. DNA DETECTION METHODS: FLUORESCENT DYES AND SILVER-STAINING 344
VARIOUS METHODS FOR DETECTING DNA MOLECULES 344
FLUORESCENCE DETECTION 344
SILVER STAINING 359
REFERENCES AND ADDITIONAL READING 361
14. INSTRUMENTATION FOR STR TYPING: ABI 310, ABI 3100, FMBIO SYSTEMS 364
THE ABI PRISM 310 GENETIC ANALYZER 364
COMPONENTS OF THE ABI 310 366
OPERATION OF THE ABI 310 FOR GENOTYPING STR SAMPLES 369
STEPS PERFORMED BY THE STANDARD MODULE 375
ALTERNATIVE SOLUTIONS FOR HIGHER THROUGHPUT CAPABILITIES 376
HITACHI FMBIO II AND FMBIO III FLUORESCENCE IMAGING SYSTEMS 380
SAMPLE PROCESSING ON THE FMBIO II 383
ISSUES WITH THE FMBIO II APPROACH 386
REFERENCES AND ADDITIONAL READING 389
15. STR GENOTYPING ISSUES 392
THE GENOTYPING PROCESS 392
FACTORS AFFECTING GENOTYPING RESULTS 397
EXTRA PEAKS OBSERVED IN THE DATA 401
REFERENCES AND ADDITIONAL READING 405
16. LABORATORY VALIDATION 408
INTRODUCTION 408
ORGANIZATIONS INVOLVED IN ENSURING QUALITY AND UNIFORMITY OF DNA TESTING 413
VALIDATION 417
INTER- LABORATORY TESTS 423
DNA STANDARD REFERENCE MATERIALS 425
QUALITY CONTROL FOR COMMERCIAL SOURCES OF MATERIALS 427
REFERENCES AND ADDITIONAL READING 427
17. NEW TECHNOLOGIES, AUTOMATION, AND EXPERT SYSTEMS 432
NEW DNA SEPARATION/ GENOTYPING TECHNOLOGIES 432
LABORATORY AUTOMATION 441
EXPERT SYSTEMS FOR STR DATA INTERPRETATION 443
UNIQUE CHALLENGES WITH FORENSIC DNA AND NEW TECHNOLOGIES 448
REFERENCES AND ADDITIONAL READING 449
18. COMBINED DNA INDEX SYSTEM (CODIS) AND THE USE OF DNA DATABASES 454
COMBINED DNA INDEX SYSTEM ( CODIS) 457
IMPORTANT ISSUES FOR DNA DATABASES 462
DNA DATABASE LAWS 466
NATIONAL DNA DATABASES AROUND THE WORLD 467
REFERENCES AND ADDITIONAL READING 469
GENETICS 472
19. BASIC GENETIC PRINCIPLES, STATISTICS, AND PROBABILITY 474
PROBABILITY 476
STATISTICS 479
PRINCIPLES OF POPULATION GENETICS 484
REFERENCES AND ADDITIONAL READING 489
20. STR POPULATION DATABASE ANALYSES 492
GENERATING A POPULATION DNA DATABASE 493
STATISTICAL TESTS ON DNA DATABASES 499
PRACTICAL CONSIDERATIONS 508
POINTS FOR DISCUSSION 513
REFERENCES AND ADDITIONAL READING 513
21. PROFILE FREQUENCY ESTIMATES, LIKELIHOOD RATIOS, AND SOURCE ATTRIBUTION 516
FREQUENCY ESTIMATE CALCULATIONS 517
LIKELIHOOD RATIO 529
SOURCE ATTRIBUTION 532
OTHER TOPICS OF INTEREST 534
REFERENCES AND ADDITIONAL READING 534
22. APPROACHES TO STATISTICAL ANALYSIS OF MIXTURES AND DEGRADED DNA 538
MIXTURE INTERPRETATION 538
PARTIAL DNA PROFILES 545
REFERENCES AND ADDITIONAL READING 546
23. KINSHIP AND PARENTAGE TESTING 548
PATERNITY ( PARENTAGE) TESTING 549
REVERSE PARENTAGE TESTING 552
REFERENCES AND ADDITIONAL READING 554
BIOLOGY, TECHNOLOGY, AND GENETICS 
558 
24. MASS DISASTER DNA VICTIM IDENTIFICATION 560
ISSUES FACED DURING DISASTER VICTIM IDENTIFICATION EFFORTS 560
EARLY EFFORTS WITH APPLYING DNA ANALYSIS TO MASS DISASTERS 564
DNA IDENTIFICATION WORK WITH 11 SEPTEMBER 2001 VICTIMS 570
REFERENCES AND ADDITIONAL READING 576
APPENDIX I REPORTED STR ALLELES: SIZES AND SEQUENCES 
580 
EXPLANATION OF INFORMATION INCLUDED IN THE FOLLOWING TABLES: 580
REFERENCES 592
APPENDIX II U.S. POPULATION DATA - STR ALLELE FREQUENCIES 
596 
APPENDIX III SUPPLIERS OF DNA ANALYSIS EQUIPMENT, PRODUCTS, OR SERVICES 
604 
APPENDIX IV DNA ADVISORY BOARD QUALITY ASSURANCE STANDARDS 612
DNA ADVISORY BOARD - QUALITY ASSURANCE STANDARDS FOR FORENSIC 
 
 
612 
QUALITY ASSURANCE STANDARDS FOR FORENSIC DNA TESTING LABORATORIES 613
APPENDIX V DAB RECOMMENDATIONS ON STATISTICS 632
DNA ADVISORY BOARD 632
CONCLUSION 640
REFERENCES 640
APPENDIX VI NRC II RECOMMENDATIONS 642
RECOMMENDATIONS TO IMPROVE LABORATORY PERFORMANCE 642
RECOMMENDATIONS FOR ESTIMATING RANDOM- MATCH PROBABILITIES 
642 
RECOMMENDATIONS ON INTERPRETING THE RESULTS OF DATABASE SEARCHES, ON BINNING, AND ON ESTABLISHING THE UNIQUENESS OF PROFILES 
644 
RECOMMENDATION FOR RESEARCH ON JUROR COMPREHENSION 644
APPENDIX VII EXAMPLE DNA CASES 646
CASE (A) - SEXUAL ASSAULT EVIDENCE EXAMINED WITH 13 CODIS AUTOSOMAL STR LOCI 646
CASE (B) USE OF Y CHROMOSOME STR INFORMATION 649
AUTHOR INDEX 652
SUBJECT INDEX 666

Produkt-Details

• Erscheint lt. Verlag: 8.2.2005
• Sprache: englisch
• Themenwelt: Sachbuch/Ratgeber
• Themenwelt: Naturwissenschaften ► Biologie ► Genetik / Molekularbiologie
• Themenwelt: Recht / Steuern ► EU / Internationales Recht
• Themenwelt: Recht / Steuern ► Strafrecht ► Kriminologie
• Themenwelt: Sozialwissenschaften ► Politik / Verwaltung
• Themenwelt: Technik
• ISBN-10: 0-08-047061-0 / 0080470610
• ISBN-13: 978-0-08-047061-0 / 9780080470610