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Overview

In 1992 the National Research Council issued DNA Technology in Forensic Science, a book that documented the state of the art in this emerging field. Recently, this volume was brought to worldwide attention in the murder trial of celebrity O. J. Simpson. The Evaluation of Forensic DNA Evidence reports on developments in population genetics and statistics since the original volume was published. The committee comments on statements in the original book that proved controversial or that have been misapplied in the courts. This volume offers recommendations for handling DNA samples, performing calculations, and other aspects of using DNA as a forensic tool—modifying some recommendations presented in the 1992 volume. The update addresses two major areas:


  • Determination of DNA profiles. The committee considers how laboratory errors (particularly false matches) can arise, how errors might be reduced, and how to take into account the fact that the error rate can never be reduced to zero.
  • Interpretation of a finding that the DNA profile of a suspect or victim matches the evidence DNA. The committee addresses controversies in population genetics, exploring the problems that arise from the mixture of groups and subgroups in the American population and how this substructure can be accounted for in calculating frequencies.

This volume examines statistical issues in interpreting frequencies as probabilities, including adjustments when a suspect is found through a database search. The committee includes a detailed discussion of what its recommendations would mean in the courtroom, with numerous case citations. By resolving several remaining issues in the evaluation of this increasingly important area of forensic evidence, this technical update will be important to forensic scientists and population geneticists—and helpful to attorneys, judges, and others who need to understand DNA and the law. Anyone working in laboratories and in the courts or anyone studying this issue should own this book.

Product Details

ISBN-13: 9780309121941
Publisher: National Academies Press
Publication date: 01/12/1997
Pages: 272
Sales rank: 995,588
Product dimensions: 5.90(w) x 8.90(h) x 0.60(d)

Table of Contents

EXECUTIVE SUMMARY 1(8)
OVERVIEW 9(38)
Introduction 9(1)
Our Assignment 10(1)
DNA Typing 11(1)
Basic Genetic Principles 12(2)
Forensic DNA Identification 14(9)
VNTRs 14(1)
DNA Profiling 15(3)
Matching and Binning of VNTRs 18(3)
Allele (Bin) Frequencies 21(1)
PCR-Based Systems 21(2)
Assuring Laboratory Accuracy 23(2)
Population Genetics 25(5)
Randomly Mating Populations 26(2)
Population Structure 28(1)
Dealing with Subpopulations 28(1)
Persons from the Same Subpopulation 29(1)
Some Statistical Considerations 30(5)
The Reference Database 30(1)
Match Probability, Likelihood Ratio, and Two Fallacies 31(1)
Bayes's Theorem 31(1)
Suspect Identified by Database Search 32(1)
Uniqueness 33(1)
Uncertainty About Estimated Frequencies 33(1)
PCR-Based Tests 34(1)
The Ceiling Principles 35(1)
DNA in the Courts 36(1)
Conclusions and Recommendations 36(6)
Admissibility of DNA Evidence (Chapter 2) 36(1)
Laboratory Errors (Chapter 3) 37(1)
Population Genetics (Chapter 4) 38(1)
Statistical Issues (Chapter 5) 39(2)
Legal Issues (Chapter 6) 41(1)
Illustrative Example 42(5)
A Typical Case 42(3)
Suspect Found by Searching a Database 45(1)
Suspect and Evidence from the Same Subpopulation 46(1)
A PCR-Break System 46(1)
1 INTRODUCTION
47(13)
The 1992 National Research Council Report
48(1)
The Committee's Task
49(1)
The Validity of DNA Typing
50(1)
The Use of DNA for Exclusion
51(1)
Changes Since the 1992 Report
52(1)
Population Data
52(1)
Technical Improvements
53(1)
Paternity Testing
53(1)
Regulatory Oversight
54(1)
Seemingly Contradictory Numbers
55(1)
Very Small Probabilities
56(1)
Fingerprints and Uniqueness
56(1)
Designating Population Groups and Subgroups
57(1)
The Nature of Our Recommendations
58(2)
2 GENETIC AND MOLECULAR BASIS OF DNA TYPING
60(15)
Fundamentals of Genetics
60(5)
VNTR Typing
65(4)
PCR-Based Methods
69(4)
Conclusions
73(2)
3 ENSURING HIGH STANDARDS OF LABORATORY PERFORMANCE
75(14)
Quality Control and Quality Assurance in the Laboratory
76(4)
Current QC and QA Guidelines
76(2)
The Role of Proficiency-Testing and Audits
78(2)
Safeguarding Against Error
80(5)
Sample Mishandling and Data-Recording Errors
80(2)
Faulty Reagents, Equipment, Controls, or Technique
82(1)
Evidence Contamination
82(2)
Analyst Bias
84(1)
Should an Error Rate Be Included in Calculations?
85(2)
Retesting
87(1)
Conclusions and Recommendations
87(2)
Laboratory Errors
87(1)
Proficiency Tests
88(1)
Duplicate Tests
88(1)
4 POPULATION GENETICS
89(36)
Allele and Genotype Proportions
90(1)
Random Mating and Hardy-Weinberg Proportions
90(7)
HW Proportions in a Large Sample
93(3)
Exclusion Power of a Locus
96(1)
Departures from HW Proportions
97(5)
Inbreeding and Kinship
98(1)
Population Subgroups
99(3)
Subpopulation Theory
102(2)
Taking Population Structure into Account
104(2)
Multiple Loci and Linkage Equilibrium
106(7)
How Much Departure from LE is Expected?
107(1)
What Do the VNTR Data Show?
108(5)
Relatives
113(1)
Persons from the Same Subpopulation
113(3)
PCR-Based Systems
116(4)
A Conservative Rule for PCR Loci
119(1)
Development of New Systems
120(1)
Inadequate Databases
121(1)
Conclusions and Recommendations
122(1)
Evidence DNA and Suspect from the Same Subgroup
122(1)
Insufficent Data
123(1)
Dealing with Relatives
123(1)
Appendix 4A
123(2)
5 STATISTICAL ISSUES
125(41)
Data Sources
126(1)
Match Probability and Likelihood Ratio
127(6)
Mixed Samples
129(1)
Bayes's Theorem
130(3)
Two Fallacies
133(1)
Suspect Identified by a DNa Database Search
133(2)
Very Small Probabilities
135(1)
Uniqueness
136(3)
Statistical Aspects of VNTR Analysis
139(7)
Determining a Match
139(3)
Binning
142(4)
Confidence Intervals for Match Probabilities
146(2)
Alleles with Low Frequency
148(1)
Individual Variability and Empirical Comparisons
148(6)
Geographical Subdivision
149(2)
Differences Among Subgroups
151(1)
Different Races
151(3)
More Conservative Formulae
154(2)
The Ceiling Principles
156(3)
Direct Count from a Database
159(1)
Conclusions and Recommendations
160(2)
Statistical Issues
160(1)
Database Searches
161(1)
Uniqueness
161(1)
Matching and Binning
161(1)
Ceiling Principles
162(1)
Further Research
162(1)
Appendix 5a
162(1)
Appendix 5b
163(2)
Appendix 5c
165(1)
6 DNA EVIDENCE IN THE LEGAL SYSTEM
166(46)
Legal Standards and Procedures
167(9)
The Defendant's Right to Discovery
167(2)
Expertise
169(2)
General Acceptance and Sound Methodology
171(3)
Balancing and Weight
174(1)
Trends in the Admissibility of DNA Evidence
174(2)
Typing Methods
176(3)
VNTR Profiling
176(1)
PCR-Based Testing
177(2)
Laboratory Error
179(13)
Population and Subpopulation Frequencies
185(1)
Convenience Samples
186(1)
The Disagreement About Substructure
187(1)
Ceiling Frequencies in Court
188(4)
Explaining the Meaning of a Match
192(12)
The Necessity for Quantitative Estimates
193(1)
Qualitative Testimony on Uniqueness or Infrequency
193(2)
Quantitative Assessments: Frequencies and Match Probabilities
195(4)
Quantitative Assessments: Likelihood Ratios and Posterior Odds
199(4)
Importance of Behavioral Research
203(1)
Conclusions
204(1)
Appendix 6a
205(7)
ABBREVIATIONS 212(2)
GLOSSARY 214(5)
BIOGRAPHICAL INFORMATION 219(5)
ACKNOWLEDGMENTS 224(2)
REFERENCES 226(15)
INDEX 241

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