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Index
A
Accountability and public scrutiny, 11, 49
Admissibility of DNA evidence, 3
balancing factors, 174
calculation of profile frequency and, 185
cases and statutes, 205-209
ceiling principles, 188-192
convenience sampling, 188
DQA test, 169 n.8, 174 n.18, 190 n.74, 192
general-acceptance test, 171-172, 173, 175 n.24, 178, 180
helpfulness standard, 173
by jurisdiction, 205-211
laboratory standards and, 41, 185
likelihood ratios, 190, n.74, 200-202
PCR-based profiles, 175, 176 n.27, 177 n.30, 187
product-rule estimates, 187, 191 n.78
proficiency-test statistics, 185
profile frequency data, 185-192
qualitative estimates, 193-195, 200
quantitative estimates, 193
relevance standard, 175 n.24
sound methodology standard, 171, 172-173, 178, 191
standards of proof, 166-167
trends in, 36-37, 41, 73, 174-176
VNTR profiling, 174 n.18, 176-177, 178, 188
African Americans, see Black populations
Alleles
DQA locus, 90
frequencies, 20, 21, 25, 90, 97, 101, 109, 186, 187
interindividual variability, 21, 148-154
interpopulation variability, 5-6, 21, 90
low-frequency (rare), 20-21, 148, 154
American Board of Criminalistics, 79
American Indian populations, 39, 111, 121, 123, 127, 154, 158, 168 n.6, 191 n.78
American Society of Crime Laboratory Directors/Laboratory Accreditation Board (ASCLD-LAB), 4, 24, 37, 77-78, 79, 85
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B
Base pairs, 12-13, 14, 61-62, 65 214
Bayes' theorem, 32-33, 131-133, 164-165, 201
Behavioral research, 8, 42, 199, 203-204
Binning, see VNTR typing
Black populations
allelic frequencies, 22, 90, 91, 92, 95, 112
STR diversity, 119
geographic variability, 149-150
likelihood ratios, 115-116
linkage disequilibrium in, 27, 111
origins, 99
Blood groups, M-N, frequencies, 94
C
Calculations and equations
allele frequency, 148
Bayes' theorem, 32-33, 131-133, 164-165
"birthday problem," 165
conditional probabilities, 114-116
confidence limits for match probabilities, 147, 159-160
conservatism, 111
database searches and, 7, 134-135, 163-165
error rates in, 85-87
exclusion power of a locus, 96
floating bin, 142-143
genotype frequencies, 26
HW expectations, 28, 38, 92, 93 n.2, 148
inadequate database and, 6
inbreeding coefficient, 98-99, 216
issues, 50
match probability, 10, 29-30, 32, 39, 45, 46, 52, 111, 114-116, 129-130, 139, 147, 161
measurement standard deviation, 140-141
from population-average allele frequencies, 100, 108
population-structure, 6, 38, 114-116
population subdivision effects, 29-30, 38, 102-104, 114-116, 123-124, 160
product rule, 5, 6, 27, 28, 45, 53, 110, 112, 114, 156, 157, 160
of profile frequencies, 5-6, 28, 122, 163-165
racially mixed databases, 5, 6-7, 38, 99-100, 122, 163-165
recommendations, 5-6, 7, 122, 161
relatives of suspects, 6, 39, 113
2p rule, 5, 29, 38, 45, 104-105, 111, 112, 114, 119-120, 122, 154, 157, 162
uncertainty windows, 145
VNTR uncertainty windows, 7, 145
Wright's algorithm, 113
Wright's fixation index, 102
Cases
Ake v Oklahoma, 181-182, 183 n.55
Andrews v State, 174 n.18
Arizona v Youngblood, 184 n.61
Barnes v State, 180 n.41
Blige v State, 206
Brim v State, 189 n.71
Cade v State, 182 n.49
Caldwell v State, 174 n.20 206
California v Trombetta, 184 n.60
Campbell v State
Commonwealth v Beausoleil, 202 n.100
Commonwealth v Crews, 193 n.80, 194 n.83, 198 n.92 201 n.99, 208
Commonwealth v Curnin, 175 n.21, 180 n.41, 196-197
Commonwealth v Gleniewicz, 184 n.62
Commonwealth v Lanigan, 189 n.71, 190 nn.74, 77, 191 n.78, 207
Commonwealth v Pestinikis, 174 n.18
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Daubert v Merrell Dow Pharmaceuticals, 172-173, 185 n.64, 191 n.78
Davidson v State, 180 n.41, 200 n.97, 207
Fishback v People, 176 n.26
Flores v State, 208
Franson v Micelli, 190 n.74, 206
Frias v State, 181 n.43
Frye v United States, 171-172, 175, 178 n.31, 180, 185 n.64, 188 n.70, 190 n.73, 194 n.83
Fuller v State, 208
Greenwood v United States, 198 n.92
Harrison v. State, 177 n.31, 181 n.47, 182, 182 n.50, 207
Hicks v State, 181 n.46
Hilbish v State, 205
Husske v Commonwealth, 182 n.49
Lindsey v People, 187 n.68, 188 n.69, 189 n.71, 206
Mickens v Commonwealth, 209, 211
Moore v State, 181 n.43
Nelson v State, 206
People v Adell, 207
People v Amundson, 178 n.32, 179 n.36, 187 n.69 206
People v Antoigue, 193 n.80
People v Axell, 206
People v Barney, 180 n.41, 193 n.80, 199, 206
People v Bell, 181 n.43
People v Castro, 175 n.23, 180
People v Cooper, 184 n.60
People v Davis, 168 n.5
People v Garries, 184 n.60
People v Griffin, 184 n.60, 185 n.63
People v Groves, 178 n.32
People v Hall, 197
People v Heaton, 194 n.83, 198 n.92, 206
People v Lipscomb 206
People v Marlow, 187 n.69, 188 n.71, 189 n.71, 206
People v Morales, 178 n.34, 192 n.79
People v Palumbo, 208
People v Pizarro, 206
People v Simpson, 178 n.35, 196, 199
People v Stremmel, 180 n.41, 206
People v Taylor, 206
People v Vann, 208
People v Venegas, 177 n.29, 188 n.71, 190 nn.75, 77, 195 206
People v Wallace, 175, 190 n.76, 193 n.80, 206
People v Watson, 190 n.74, 206
People v Wesley, 208
People v White, 208
People v Wilds, 187 n.69, 188 n.71, 206
Perry v State, 175 n.23, 180 n.41, 205
Polk v State, 207
Powell v State, 169 n.8
Prater v State, 206
Prince v Superior Court, 181 n.44, 183 n.56
Rivera v State, 193 n.81
Satcher v Commonwealth, 175 n.24 209
Serritt v State, 178 n.32
Smith v Deppish, 201 n.99
Spencer v Commonwealth, 168 n.6, 209
Springfield v State, 194 n.81, 209
State v Alt, 190 n.77, 193 n.81
State v Anderson, 172 n.17, 208
State v Bible, 180 n.41, 186 n.65, 198, 205
State v Bloom, 190 n.75, 194 n.84, 195 n.85, 196, 198, 207
State v Bogan, 167, 193 n.81, 194 n.83, 205
State v Boyd, 196 n.89
State v Brown, 207
State v Buckner, 136, 186 n.65, 194 n.82, 209
State v Carlson, 196 n.89
State v Carter, 169 n.8, 178 n.33, 187 n.68, 188 n.70, 190 n.73, 192 n.79, 193, 207
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State v Cauthron, 180 n.41, 190 n.75, 194 n.82, 209
State v Colbert, 170 n.9
State v Cosey, 184 n.60
State v Davis 207
State v DeSpain, 193 n.81
State v Faraone, 181 nn.44, 45
State v Feldman, 168 n.5
State v Ford, 208
State v Futch, 208
State v Gaddis, 184
State v Gentry, 178 nn.31, 32, 35, 179 n.38, 183 n.52, 209
State v Grayson, 178 nn.31, 33
State v Guevara, 189
State v Haddock 207
State v Hartman 202 n.100
State v Hill, 178 n.32
State v Hoff, 178 n.32
State v Hollis, 190 n.76, 193 n.80
State v Hummert, 193 n.81, 194 n.82, 205
State v Jackson 200 n.97
State v Jobe, 183 n.52
State v Johnson, 190 n.77, 205
State v Lewis, 169 n.8
State v Lyons, 178 n.32, 179 n.39, 208
State v McDaniel, 183 n.56, 184 n.59
State v McFadden, 169 n.8
State v Melvins, 183 n.56
State v Montalbo, 172 n.15, 206
State v Moore, 176 n.26, 178 n.32, 179 n.39, 193 n.81, 207
State v Pennington 208
State v Peters, 173 n.16, 191 n.78, 209
State v Pierce, 175 n.24, 194 n.83, 208
State v Quatrevingt 207
State v Russell, 177-178 nn.31, 32, 179 nn.36, 39
State v Satterfield 209
State v Schwarz, 168 nn.4, 5, 175 n.22, 180 n.43, 185 n.63, 193 n.81, 196 n.89
State v Schweitzer, 196 n.88, 208
state v Skipper, 200 n.97, 202 nn.100, 102
State v Spann, 200 n.97, 202 n.102
State v Springfield, 191 n.78
State v Steele 208
State v Streich, 172 n.17, 176 n.26, 179 n.40, 185 n.64, 190 n.75, 191 nn.77, 78, 208
State v Thomas, 181 n.43, 201 n.99
State v Vandebogart, 180 n.41, 190 nn.74, 77, 207
State v Weeks, 196 n.88, 200 n.97, 207
State v Williams, 178 n.32, 207
State v Wimberly, 208
State v Woodall, 172 n.15
State v Zollo, 194 n.83
Swanson v. State, 169 n.8, 206
Taylor v Commonwealth, 170 n. 1l, 198 n.92
Taylor v State, 187-188 nn.69, 71, 196, 198 n.92, 208
Trimboli v State, 178 n.32
United States v Alvarez, 183 n.53
United States v Bonds, 170, 175 n.24, 176 n.27, 186 n.65, 191 n.78, 205
United States v Butler, 180 n.43
United States v Chischilly, 191 n.78, 196 n.88, 205
United States v Davis, 169 n.8, 205
United States v Fatico, 195 n.86
United States v Jakobetz, 175 n.24, 176 n.27, 186 n.65, 191 n.78, 205
United States v Martinez, 191 n.78, 198 n.92, 205
United States v Nobles, 183 n.53
United States v Perry, 172 n.15, 205
United States v. Porter, 170, 177, 190 nn.74, 77, 206
United Staes v Shue, 168 n.7
United States v Two Bulls, 175 n.23, 180 n.41
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United States v Yee, 168 n.5, 175 n.24
Williams v State, 170 n. 11
Caucasians, see White populations
Ceiling principles
criticisms of, 1, 35, 52-53, 157-158, 190-192
interim, 28, 35, 36, 52, 58, 116, 157, 158, 159, 188, 189 n.72, 216
need for, 2, 35-36, 41, 58, 158-159, 162
paternity testing and, 54
population substructure and, 28
and random mating theory, 159, 186
TWGDAM report on, 158
Cellmark Diagnostics (UK), 79, 86, 152, 175 n.21, 189 n.71
Centre d'Etude du Polymorphisme Humain, 93
Chromosomes
crossing over, 14, 15, 27, 64, 65, 215
homologous pairs, 60-61
sex (X and Y), 12, 61, 99 n.6, 218
Collaborative Testing Services, 79
College of American Pathologists, 78, 79
Conclusions and recommendations,
summarized, 36-42
Conditional probabilities, 29
Conservatism
ceiling principles, 52-53, 156-159, 162, 188-192
defined, 215
degrees of, 55
direct counting procedure, 55-56
effects on probablities, 154-156
for heterozygotes, 28, 38, 122
in match probabilities, 30, 105, 111, 144
for PCR loci, 29, 119-120, 122
product rule with 2p rule, 111, 114, 154
in profile frequency calculations, 5
for subpopulations, 30, 58, 154-155, 156
2p rule, 5, 29, 38 45, 104-105, 111, 112, 114, 119-120, 122, 154, 157, 162
Conviction rates, 197 n.91
Covariance, allele frequency, 100
D
DAB, see DNA Advisory Board
Databases
availability of, 52
convenience samples, 30, 58, 126, 186, 215
convicted felons, 2, 11, 49, 79-80
departures from HW proportions, 97-98, 104
direct count from, 55, 159-160
DNA fragment sizes, 18
FBI, 34, 108, 109 n.13, 127, 148-149
individual variability across, 148-154
laboratory proficiency-testing samples in, 79-80
match probability differences between, 146-148
non-DNA information in, 11, 49
pooling of profiles from, 155-156
race considerations, 21, 38, 96, 127, 155-156, 163-164
recommendations, 6, 39, 40, 123
regional, 110
reliability, 135-136
representativeness, 33, 125, 186
size considerations, 32, 39, 93, 98, 110, 114, 125, 135, 146, 147, 160
sources, 21, 30, 58, 93 n.2, 126-127
suspects initially identified from, 7, 32-33, 39-40, 45, 133-135, 161, 163-165
TWGDAM, 27, 34, 109 n.13, 110, 153-154, 160
VNTR, 119
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Digital typing, 73
Discovery, 41, 167-169, 180 n.43, 183, 184 n.59, 204
Distinction between DNA profiling and other identification evidence, 47-48, 166-167
DNA
defined, 215
hybridization, 62, 67, 71-72 216
markers. see Genetic markers
probes, 16, 18, 41, 42, 53, 67, 71, 130, 162, 174 n.19, 215, 217
DNA Advisory Board, 4, 24, 37, 54-55, 59, 78, 87, 88
DNA Identification Act of 1994, 24, 37, 54, 78, 79, 87
DNA profiling/analysis
interpretation of results, 10-11; see Population genetics; Statistical issues
judicial notice of, 172
process, 66
sample size requirements, 11
standard-setting, 54
status of, 10
technical improvements in, 53, 59
time and expense, 135 n.5
validity of, 50-51
see also VNTR typing
DQA locus/test
court acceptance of, 169 n.8, 174 n.18, 190 n.74, 192
exclusion power, 23, 72, 74, 96
gene diversity, 118
genotype frequencies, 91
method of detection, 74
mixed samples, 130
Dot-blot typing, 129
E
Enzymes, see Restriction enzymes
Equations, see Calculations and equations
Error
absolute, 136
analyst bias, 84-85
database representativeness, 33-34
data-recording, 80-82, 109 n.14
defendants' challenges based on, 179-185
evidence contamination, 23, 82-84
issues, 85-87
measurement, 139
in paternity testing, 54
pooling of proficiency test results, 86
prevention in laboratories, 66, 80-85
resampling same person, 109 n.14
sample mishandling, 80-82
Ethnic group, 57, 58; see also Race/racial group
Evidence DNA
contamination, 82-84
database inadequacies, 6
defined, 2
juror assessment of, 133
probative value, 56
retesting, 81, 87, 88, 180-184
suspect DNA from same population, 29-30, 38, 46, 113-116, 122
Exclusion
defined, 51
population genetics and, 50
power of a locus, 23, 72, 74, 96-97, 119
Expert witnesses
qualifications of, 169-171
for indigent defendants, 181-182
testimony of, 42, 49, 51-52, 55, 166-167, 168 n.7, 171-172, 182-183, 197, 198, 201-202
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F
False matches, 51, 75, 82, 83, 84, 185
FBI
Automated Fingerprint Information Service, 168 n.5
database, 34, 108, 109 n.13, 127, 148-149
ceiling principle applied by, 189 n.71
DNA Advisory Board, 4, 24, 37, 54-55, 59, 78, 88, 175, 176 n.27, 177 n.30, 187
floating-bin frequency calculations, 144
match window, 176
measurement uncertainty studies, 140
FIS, see Theta
FIT, see Theta
Fixation index, see Theta
Fixed bins, see VNTR typing
Floating bins, see VNTR typing
Forensic DNA identification, see DNA profiling; Polymerase chain reaction; VNTR typing
FST, see Theta
G
Gel electrophoresis, 16, 67, 82 215
General-acceptance standard, 171-173, 178, 180, 190, 192, 193, 196, 208
Genetic markers, 10; see also Locus (loci)
defined, 217
departures from random-mating
proportions, 28
for initial identification of suspects, 134
linkage disequilibrium, 107-108
PCR, 74; see also DQA locus
STR, 74
validation, 83
Genetic variability, 15
Genetics, fundamentals, 12-14, 60-65;
see also Population genetics
Genotypes
population proportions, 90
relative frequencies of, 15
Georgia, 22, 94, 95, 149-150, 174, 206, 210
GST, see Theta
H
Hardy-Weinberg (HW) proportions
calculations, 28, 38, 92, 93 n.2, 148
court challenges to, 169 n.8, 174 n.20, 187, 190 n.73
departures from, 93 n.2, 97-101, 104-106, 148, 150
in large samples, 93-96
linkage equilibrium distinguished from, 106-107
rare alleles, 148
in subpopulations, 28, 38, 102, 103, 189
Helpfulness standard, 173
Heterozygotes/heterozygosity
frequency of, 27
race and, 98 n.5
2p rule, 5, 29, 38, 45, 104-105, 111, 112, 114, 119-120, 122, 154, 157, 162
uncertainties in probabilities, 136
Hispanic populations
databases, 127
HW proportions, 104
likelihood ratios, 115-116
linkage disequilibrium in, 27
origins, 99
STR diversity, 119
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I
Illinois, 22, 94, 95, 206, 210
Immigrants, 121
Inbreeding and kinship, 98-99, 102, 109 n.13, 120, 216; see also Relatives
Institute of Forensic Genetics (Copenhagen), 152
Introns, 63
International exchange of information, 2, 11, 49
J
Jury
behavioral research on. 8, 42, 199, 203-204
comprehension of testimony, 8, 133, 203-204
instructions to, 182, 197, 198 n.93
prior-odds implementation, 202
sources of prejudice, 197-198
see also Testimony on DNA evidence
K
Karitiana people, 109 n.13
Kentucky State Police Forensic Laboratory, 136
Kinship, 98-99
L
Laboratory performance
accreditation, 4, 24, 37, 77-78, 79, 85, 88, 180 n.42
and admissibility of DNA evidence, 41, 174-175, 199
analyst certification, 79
corrective action plans, 77
documentation requirements, 77, 78, 80, 167-168, 181 n.43
duplicate testing, 4, 23, 25, 37, 81, 83, 87, 88, 180-184
error prevention, 80-85, 87-88, 180
error probability estimates, 24-25, 85-87
independent review of analyst results, 81. 85, 88
issues, 49-50
legal challenges by defendants, 179-192
1992 report proposals, 76-77
proficiency testing, 4, 24, 37, 55, 59, 77, 78-80, 86, 88, 180, 185, 214, 217
QC and QA guidelines, 37, 55, 59, 76-78. 79, 80, 81, 84, 85, 87
reagent and equipment monitoring, 80, 82
techniques, 82
see also Error
Latin Americans, see Hispanic populations
Legal standards and procedures
attorney-client and work-product privileges, 183
burden of proof, 183 n.55
defendant's right to discovery, 41, 167-169
laboratory-error challenges, 179-192
PCR-based testing, 177-179
retesting of evidence, 181-184
standard of proof, 54, 166-167
VNTR profiling, 176-177
weight of the evidence, 174, 180
see also Admissibility of DNA evidence; Cases; Testimony on DNA evidence
Lifecodes, 34, 104, 108, 109, 168 n.5, 174 n.20, 175 n.23, 188 n.71, 198 n.92
Likelihood ratio, 8, 31, 32, 39-40, 127-133, 139-140, 163, 190 n.74 199-202
Linkage equilibrium
departures from, 38, 106, 107-108, 122, 150
HW proportions distinguished from, 106-107
in mixed populations, 107-108
multiple loci and, 38, 106-112
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PCR data, 35
racial group and, 187
random mating and, 27
VNTR data, 108-112
Locus (loci)
bin frequencies, 97
conservatisms, 119-120
CSFIR, 118
DIS7, 44, 45, 68, 106, 112, 118, 149, 150
DIS80, 72, 74, 106, 117, 137-138
D2S44, 20, 22, 44, 46, 74, 95, 96, 97, 101, 104, 107-108, 111, 112, 118, 137, 143, 149, 150
D4S139, 44, 45, 112, 118, 149, 150
D10S28, 44, 45, 107-108, 112, 118, 149, 150
D17S79, 20, 44, 45, 96, 97, 111, 118
exclusion power, 96-97, 119, 165
F13AI, 118
HUMTHO1, 74
linkage equilibrium, 106-112
LPL, 118
PCR, 23, 117, 118, 119-120, 121
PLA2A, 118
THOI, 118
VNTR, 34, 44, 45, 58, 65, 67, 68, 111, 117, 118, 119, 121, 126, 137, 149, 150
see also DQA locus/test
M
Match probability
calculations, 10, 29-30, 32, 52, 111, 114-116, 129-130, 134-135
confidence intervals, 33, 39, 55, 146-148, 159-160, 215
conservatisms in, 105
database searches and 7, 32-33, 39-40, 45, 134-135, 163-165
definition, 217
from direct counts of database profiles, 55, 159-160
error rate combined with, 85-87
evidence DNA and suspect from same subpopulation, 38, 46, 114-116, 122
enzyme and, 109
explanations in court, 192-204
five-locus, 56, 109, 119, 132, 153, 160
four-locus, 56, 109, 116, 132, 153, 154, 160, 189 n.71
for heterozygotes, 105
laboratory error probability estimates combined with, 24-25
and likelihood ratio, 8, 31, 32, 39-40, 127-133
parameters, 137
profile frequency and, 25, 89-90, 127
prosecutor's falacy, 31-32, 133
recommendations, 6, 40, 161-162
relatives of suspects/perpetrators, 113
replicate determinations, 140
single-locus, 194
three-locus, 108-109, 110, 188 n.71
threshold values, 136
uncertainties in, 33
very small, 56, 135-136, 141, 160
windows, 19-20, 40-41, 44, 127 n.3, 140-141, 143, 144, 148, 161, 162, 176
see also Calculations
Measurement of DNA fragments, 17, 18, 43, 53, 70, 139-140, 161
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Minisatellite repeat mapping, 73
Minnesota, 175, 181 n.43 207, 210
Mitochondrial DNA, 72-73, 74, 117
Mitosis, 60-61
Mixed samples, 129-130, 162-163
Mutations, 14, 15, 34, 54, 63, 64, 65, 116 n.16, 119, 121
N
National Academy of Sciences, 24; see also NCR report (1992)
National Committee on Forensic DNA Typing, 37, 54, 87, 156
National Institute of Standards and Technology, 54, 140
National Institutes of Health, 54
National Institute of Justice, 79-80
Native Americans, see American Indian populations
Natural selection, 23, 71, 94, 98, 116 n.16, 119, 121
NRC report (1992), 1-3, 48, 49, 52, 53, 58, 76-77, 87, 129, 136, 142, 143-144, 156-159, 167, 172, 173, 177, 179, 185, 187, 188, 189-190, 193, 194
Nucleotide sequence, 63
O
P
Paternity index, 131-132, 190 n.74, 200 n.97
Paternity testing, 32, 53-54, 121 n.20, 131-132, 148, 186, 201
PCR, see Polymerase chain reaction
Polymarker system, 72, 74, 118, 119-120, 154
Polymerase chain reaction (PCR)
advantages, 21, 23, 34, 36, 46, 70, 73, 116-117, 120
confirmatory tests, 25
conservatism, 29, 119-120, 122
contamination of samples, 83, 84, 179
court challenges, 175, 176 n.27, 177 n.30, 187
disadvantages, 23, 34, 71, 120-121
discriminatory power, 34, 137-138, 154
legal standards applied to, 177-179
loci, 23, 34, 71-72, 117, 121, 126 n.2, 137-138, 165, 178
population genetics and, 29, 34-35, 38, 116-120, 187
profile frequency calculations, 5 n.2, 122
RAPD, 194 n.83
uncertainties, 38, 70, 119, 122
see also DQA locus/test
Population genetics
allele proportions, 90, 159-160
database inadequacies, 121, 123
and exclusion power of a locus, 51, 96-97
genotype proportions, 90
inbreeding and kinship, 98-99
linkage equilibrium, 106-112
and PCR-based systems, 116-120
population structure and, 28, 104-106
population subgroups and, 99-101
random mating proportions, 5, 26-27, 28, 58, 90-91; see also Hardy-Weinberg proportions; Subpopulations
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relatives of suspects, 113, 123
theory, 102-104
Population structure
disagreements about, 187-188
genetics, 104-106
and match probabilities, 10-11, 105-106
and PCR-based tests, 34-35
small, isolated communities, 30, 46, 114, 116, 122
Population subgroups, see Subpopulations
Posterior odds, 8, 32, 131, 164, 199-202
Posterior probabilities, 132, 201
Prejudicial effect of evidence, 167, 196-199, 200-201, 207
Probabilities, see Conditional probabilities; Match probabilities; Posterior probabilities; Prior probabilities
Probative value of evidence, 167, 174, 185, 193, 199-200
Product rule, 5, 6, 27, 28, 35, 38, 39, 45, 110, 112, 156, 175 n.21, 187
Profile frequencies
allele frequencies and, 25
calculations, 5, 6-7, 38, 99-100, 122, 160
database inadequacies and, 6, 39, 121
geographic variability, 149-151
grouped frequency distribution, 143
match probability and, 25, 89-90, 127
from population averages, 27
race and, 6-7, 28, 99-100, 151-154, 155-156
relatives of suspects, 39
uncertainties in, 27, 33-34, 39
very rare alleles, 20-21
white population subgroups, 151
see also Ceiling principles
Prosecutor's falacy, 31-32, 133, 198
Q
Quality assurance, 24, 37, 76, 87, 217; see also Laboratory performance
Quality control, 24, 37, 76, 217
R
Race/racial group
allele differences between, 98, 111-112, 151-154, 156
allele frequencies within, 94-96, 98, 111-112, 150-151, 156, 187
and calculation of profile frequency, 5-6, 28, 122, 163-165
data source errors, 34
definition, 57
DQA genotype frequency, 91
pooled mixture, 154-155
statistical aspects of, 151-154
Rape cases, 51, 175 n.21, 191 n.78
Recommendations
database inadequacies, 6, 39, 123
interpretation of database searches, 7-8
juror comprehension research, 8, 42, 8, 42, 199, 204
laboratory performance, 4, 37, 87-88
laboratory proficiency tests, 4, 37, 88
match probability calculations, 5-6, 40, 161
nature of, 58-59
1992 report, 48-49, 52, 54, 58, 87, 129-130, 134, 142, 143, 156
profile frequency calculations, 5-6, 38, 122
relatives of suspects, 6, 58-59, 123
suspects identified through database searches, 161
Regulatory oversight, 54-55
Relatives of suspects, 6, 58-59, 113, 123, 195-196
Restriction enzymes
defined, 218
Pst I, 109
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Reverse blot, 71
RFLPs, see VNTR typing
S
Samples
contamination, 23, 71, 83-84, 179
degraded, 10, 47, 69, 70, 72, 142, 174 215
duplicate testing, 4, 23, 25, 37, 81, 87, 88
gender testing of, 81
mixed, 31, 84, 129-130, 162-163
mixups and mislabeling, 80-82
from skeletal remains, 72
Semen/sperm, DNA from, 5, 12, 84
Short tandem repeats (STRs), 23, 32, 34, 70-71, 73, 117, 118, 119, 121 n.20, 126, 148, 218
Sound-methodology standard, 171-173, 178, 191, 193, 196
Statistical issues
alleles with low frequency, 148
Bayes' theorem, 32-33, 131-133
ceiling principles, 41, 156-159, 162
court challenges based on, 175, 176, 178, 185-192
data sources, 30-31, 126-127, 186
database searches, 32-33, 39-40, 45, 133-135, 161
direct count from database, 159-160
geographic subdivision, 22, 30, 94-96, 138, 149-151
individual variability, 148-154
measurement of VNTRs, 139-140
more conservative formulae, 154-156
in PCR-based tests, 34-35
profile frequencies, 33-34, 50
racial differences, 151-154
recommendations, 160-162
research needs, 162
subpopulation differences, 30-31, 151, 160
uncertainty in calculations, 11, 27, 33-34
uniqueness, 33, 40, 136-138, 161
very small probabilities, 135-136, 160
in VNTR analysis, 40, 121, 139-145, 161-162
see also Calculations; Match probabilities; Uncertainty
Statutes
compensation of experts, 182 n.48
retesting of physical evidence, 180 n.43
standards for scientific evidence, 171 n. 12
STRs, see Short tandem repeats
Subpopulations
admissibility of evidence on, 187-188
allele frequencies, 5-6
geographic subdivisions, 30, 149-151
HW proportions in, 35, 102, 103
interindividual variability, 118, 151
proportions, 99-101
same for evidence DNA and suspect, 29-30, 38, 46, 113-116, 122
theory, 102-104
see also Race/racial groups
Suspects
identified by database searches, 32-33, 133-135, 161
T
Technical Working Group on DNA Analysis Methods (TWGDAM)
ceiling principle report, 158
data set, 27, 34, 109 n.13, 110, 160
laboratory QA/QC guidelines, 4, 24, 37, 59, 77, 79, 80, 81, 84, 85, 87, 88
Testimony on DNA evidence
expert, 41-42, 49, 51-52, 55, 166-167,
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168 n.7, 169-171, 181-184, 197, 198, 201-202
frequencies and match probabilities, 195-199
laboratory error, 201
likelihood ratios and posterior odds, 8, 199-202
quantitative estimates of profile frequency, 192, 193
response to, 203-204
uniqueness/infrequency of profiles, 136, 193-195
Theta (0), 29-30, 102-106, 114-116
U
Uncertainty
allele frequency and, 20-21, 112
database representativeness and, 33, 55, 125
database size and, 27, 93, 125
departures from random mating
individual variability, 112, 148, 150
in match probabilities, 10, 32, 33, 55, 136, 160
measurement of DNA fragments, 18, 19-20, 40, 53, 70, 139-140, 161
in PCR-based systems, 38, 119, 122
in population averages, 108
population structure and, 10-11, 38, 55, 125-126
in profile frequency estimates, 27, 33-34, 39
reduction measures, 21
Uniqueness
all profiles considered simultaneously, 137, 165
defined, 195
demonstration of, 9-10, 137-138, 161
fingerprints and, 56-57
probabilities, 7-8, 40, 136-138
in tissues, 12
United States population
data sources on, 58
HW proportions in, 104
see also White populations
V
Variable-number tandem repeats, 14-15, 218;
see also VNTR typing
Variance, allele-frequency, 100
VNTR typing
autoradiographs (autorads), 16, 17, 19, 42-43, 53, 67, 68, 85, 139, 185 214
bin frequencies of specific loci, 20, 22, 97, 111
binning, 18, 45, 40-41, 69, 141, 142-144, 148, 161-162, 174 n.20, 176, 188 n.71 200 n.96, 214
case study, 42-45
conservatism in, 28-29
continuous distribution model, 139, 161
database, 119
disadvantages, 18, 35, 36, 53, 73
discriminatory power, 137, 154
fixed bins, 7, 18, 19, 22, 40, 95, 141, 143-144, 161-162, 177
floating bins, 7, 18, 20, 40, 141, 142-143, 148, 161-162, 177
HW calculation, 104-105, 106, 148
inconclusive tests, 139
legal standards applied to, 175 n.22, 176-177, 178, 188
and linkage equilibrium, 108-112
loci required/used, 34, 44, 45, 58, 65, 67, 68, 74, 111, 117, 118, 119, 121, 126, 137, 149, 150, 189 n.71
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matching, 7, 17-18, 19-20, 40-41, 44-45, 84, 139-142, 161-162, 176
measurement errors, 139-140
product rule, 28, 35, 38, 45, 154
profile frequency calculations, 5, 45, 143, 187, 188
recommendations, 20, 38, 40-41, 104-105, 122, 148, 161-162
sample handling, 83
statistical aspects, 121, 139-145
subpopulations and, 188-189
technique, 15-17, 42-43, 65-68
2p rule, 5, 29, 38, 45, 104-105, 111, 112, 114, 119-120, 122, 154, 157, 162
uncertainties, 7, 19-21, 40, 44, 119-120, 121, 140, 145, 161
W
Wahlund's principle, 100-101
Weinberg, Wilhelm, 91
White populations
allele frequencies, 20, 22, 91, 97, 101, 112, 151, 153
DIS80 locus, 137-138
D2S44 locus, 137
HW proportions in, 104
likelihood ratios, 115-116
linkage disequilibrium in, 27, 111
M-N blood group locus, 94, 101
STR diversity, 119
Wiener, A. S., 94
Wright, Sewall, 98-99
Wright's algorithm, 113