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Index A Accountability and public scrutiny, 11, 49
Adenine, 12, 61, 214
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
Alabama, 205, 210
Alaska, 205, 210
Alleles
defined, 14, 15, 63, 65 214
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
notation for, 21, 90
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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Index A Accountability and public scrutiny, 11, 49
Adenine, 12, 61, 214
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
Alabama, 205, 210
Alaska, 205, 210
Alleles
defined, 14, 15, 63, 65 214
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
notation for, 21, 90
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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Arizona, 191 n.78, 205, 210
Arkansas, 206, 210
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
databases, 93 n.2, 127
STR diversity, 119
geographic variability, 149-150
HW proportions, 93, 104
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
likelihood ratio, 128, 163
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
uncertainties in, 10, 112
uncertainty windows, 145
uniqueness, 33, 137, 165
VNTR uncertainty windows, 7, 145
Wright's algorithm, 113
Wright's fixation index, 102
California, 206, 210
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
Clarke v State, 178 n.32, 208
Cobey v State, 174 n.19, 207
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
Dubose v State, 182 n.49, 205
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
Hayes v State, 190 n.76, 206
Hicks v State, 181 n.46
Hilbish v State, 205
Hopkins v State, 180 207
Husske v Commonwealth, 182 n.49
Kelly v State, 172 n.13, 208
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 Adams, 172 n.15, 207
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 Soho, 187 n.69 206
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 Duran, 191 n.78, 208
State v Dykes, 168 n.6, 207
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 Harris, 182 n.50, 208
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 Klindt, 200 n.97, 201
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 Penton, 178 n.33, 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 Sivri, 190 n.73, 206
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
in court, 36, 188-192
criticisms of, 1, 35, 52-53, 157-158, 190-192
defined, 35, 52, 156-157, 215
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
Chain of custody, 25, 82
Chromosomes
crossing over, 14, 15, 27, 64, 65, 215
defined, 12, 60, 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
Colorado, 206, 210
Conclusions and recommendations,
summarized, 36-42
Conditional probabilities, 29
Confidentiality, 1, 11, 49
Connecticut, 206, 210
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
for homozygotes, 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
Cytosine, 12, 61, 215
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
inadequate, 6, 39, 121
individual variability across, 148-154
laboratory proficiency-testing samples in, 79-80
Lifecodes, 34, 104, 108, 109
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
searching, 32, 133-135
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
Defendant's fallacy, 31, 133, 198
Delaware, 206, 210
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Digital typing, 73
Diploid, 61 215
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
copying process, 63, 64
defined, 215
hybridization, 62, 67, 71-72 216
ladders, 17, 19, 43, 68, 69
markers. see Genetic markers
nongenic regions, 15, 126-127
probes, 16, 18, 41, 42, 53, 67, 71, 130, 162, 174 n.19, 215, 217
structure, 12-13, 61-63
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
basis, 9, 11
benefits, 11, 48, 83
defined, 14, 63, 171 n.12
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
advantages, 72, 117
alleles, 71-72, 74, 90
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
rates, 4, 85-87, 199
relative, 136, 160-161
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
relatives of suspects, 6, 39
retesting, 81, 87, 88, 180-184
suspect DNA from same population, 29-30, 38, 46, 113-116, 122
Exclusion
defined, 51
false, 51, 75, 82
population genetics and, 50
power of a locus, 23, 72, 74, 96-97, 119
Expert witnesses
qualifications of, 169-171
court-appointed, 41-42, 170
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
False negative, 71, 128, n.3
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
Fingerprints, 56-57, 194
FIS, see Theta
FIT, see Theta
Fixation index, see Theta
Fixed bins, see VNTR typing
Floating bins, see VNTR typing
Florida, 206, 210
Forensic DNA identification, see DNA profiling; Polymerase chain reaction; VNTR typing
FST, see Theta
G Galton, Francis, 47, 56-57
Gel electrophoresis, 16, 67, 82 215
General-acceptance standard, 171-173, 178, 180, 190, 192, 193, 196, 208
Genes, 13, 14, 62, 63-64, 215
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
research needs, 41, 121, 162
STR, 74
validation, 83
VNTR loci, 14-16, 65, 74, 121
Genetic variability, 15
Genetics, fundamentals, 12-14, 60-65;
see also Population genetics
Genome, 61, 62 216
Genotypes
defined, 14, 63
population proportions, 90
relative frequencies of, 15
Georgia, 22, 94, 95, 149-150, 174, 206, 210
GST, see Theta
Guanine, 12, 61, 216
H Haploid, 61, 63, 216
Hardy, G. H., 26, 91
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
defined, 26, 91-93, 216
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
Hawaii, 206, 210
Helpfulness standard, 173
Heterozygotes/heterozygosity
defined, 14, 63, 216
frequency of, 27
HW calculation, 27, 105
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
allele frequencies, 112, 153
databases, 127
HW proportions, 104
likelihood ratios, 115-116
linkage disequilibrium in, 27
origins, 99
STR diversity, 119
Homozygotes/homozygous, 12, 63, 65, 105, 137-138, 216
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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
Indiana, 207, 210
Institute of Forensic Genetics (Copenhagen), 152
Introns, 63
Inuits, 11 , 121, 123
International exchange of information, 2, 11, 49
Iowa, 207, 210
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 Kansas, 207, 210
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
audits, 24, 77, 78-80 217
control samples, 82, 83
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
improvements in, 53, 78
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
recommendations, 4, 37, 87-88
standards, 10, 54-55, 59, 142
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
defined, 106, 216
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
D7S8, 72, 118
D10S28, 44, 45, 107-108, 112, 118, 149, 150
D17S79, 20, 44, 45, 96, 97, 111, 118
defined, 13, 63, 216
exclusion power, 96-97, 119, 165
F13AI, 118
GC, 72, 118, 119
GYPA, 72, 118
HBGG, 72, 118, 119
HUMTHO1, 74
linkage equilibrium, 106-112
LDLR, 72, 118, 119
LPL, 118
MN blood group, 72, 94, 101
PCR, 23, 117, 118, 119-120, 121
PLA2A, 118
Polymarker, 117, 118-119
STR, 117, 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
Louisiana, 207, 210
M Maryland, 207, 210
Massachusetts, 175 207, 210
Match probability
calculations, 10, 29-30, 32, 52, 111, 114-116, 129-130, 134-135
conditional, 113, 133, 164
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
defendant's falacy, 31, 133
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
floating bins and, 7, 143-144
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
multilocus, 34, 47, 106-112
parameters, 137
posterior odds, 8, 32, 131
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
six-locus, 119, 153
three-locus, 108-109, 110, 188 n.71
threshold values, 136
two-locus, 108, 110
uncertainties in, 33
uniqueness and, 10, 136-138
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
Meiosis, 61 217
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Michigan, 207, 210
Minisatellite repeat mapping, 73
Minnesota, 175, 181 n.43 207, 210
Mississippi, 207, 210
Missouri, 207, 210
Mitochondrial DNA, 72-73, 74, 117
Mitosis, 60-61
Mixed samples, 129-130, 162-163
M-N blood group, 94, 101
Montana, 207, 210
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
Nebraska, 188 n.69 207, 210
New Hampshire, 207, 210
New Jersey, 207, 210
New Mexico, 208, 210
New York City, 27, 94
New York State, 208, 210
North Carolina, 208, 211
Notation, allele, 21, 90
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 Ohio, 208, 211
Oklahoma, 181 n.43, 208, 211
Oregon 208, 211
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
Pennsylvania, 208, 211
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
defined, 69, 217
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
methods, 46, 69-73
population genetics and, 29, 34-35, 38, 116-120, 187
profile frequency calculations, 5 n.2, 122
RAPD, 194 n.83
sample handling, 83, 84
sample size, 11, 70, 81, 116
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
recommendations, 38, 122-123
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relatives of suspects, 113, 123
theory, 102-104
Population structure
calculations, 5-6, 38
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
Prior odds, 131, 201-202
Prior probability, 132, 164
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
subgroups, 58, 98, 155-156
Rape cases, 51, 175 n.21, 191 n.78
Recommendations
database inadequacies, 6, 39, 123
duplicate tests, 4, 37, 88
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
marker research, 7-8, 41, 162
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
subpopulations, 38, 122-123
suspects identified through database searches, 161
VNTR typing, 20, 38
Regulatory oversight, 54-55
Relatives of suspects, 6, 58-59, 113, 123, 195-196
Restriction enzymes
defined, 218
Hae III, 66, 95, 101
Pst I, 109
Retesting of DNA evidence, 81, 87, 88, 180-184
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Reverse blot, 71
RFLPs, see VNTR typing
S Samples
contamination, 23, 71, 83-84, 179
controls, 17, 82
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
size requirements, 11, 70
from skeletal remains, 72
storage, 1, 11, 49, 87, 88
Security, 1, 11, 49
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
South Carolina, 208, 211
South Dakota, 208, 211
Southern blotting, 67 218
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
fallacies, 31, 133
geographic subdivision, 22, 30, 94-96, 138, 149-151
individual variability, 148-154
measurement of VNTRs, 139-140
mixed samples, 31, 129-130
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
sample size, 32, 93, 104
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
differences among, 58, 151
geographic subdivisions, 30, 149-151
HW proportions in, 35, 102, 103
interindividual variability, 118, 151
linkage equilibrium, 35, 105
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
relatives of, 6, 113
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
Tennessee, 171 n.12, 208, 211
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
juror comprehension, 8, 42
laboratory error, 201
likelihood ratios and posterior odds, 8, 199-202
quantitative estimates of profile frequency, 192, 193
recommendations, 8, 42
response to, 203-204
uniqueness/infrequency of profiles, 136, 193-195
Texas, 208, 211
Theta (0), 29-30, 102-106, 114-116
Thymine, 12, 61, 218
U Uncertainty
allele frequency and, 20-21, 112
database representativeness and, 33, 55, 125
database size and, 27, 93, 125
departures from random mating
proportions, 92, 150
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
statistical, 11, 27
in VNTR typing, 18, 44, 121
windows, 19, 44, 140, 145
Uniqueness
all profiles considered simultaneously, 137, 165
calculations, 33, 137, 165
defined, 195
demonstration of, 9-10, 137-138, 161
fingerprints and, 56-57
probabilities, 7-8, 40, 136-138
testimony on, 136, 193-195
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
Vermont, 208, 211
Virginia, 209, 211
VNTR typing
advantages, 14, 65
autoradiographs (autorads), 16, 17, 19, 42-43, 53, 67, 68, 85, 139, 185 214
band-shifting, 139, 142, 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
controls, 17, 82
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
mixed samples, 129, 130
product rule, 28, 35, 38, 45, 154
profile frequency calculations, 5, 45, 143, 187, 188
rebinning, 148, 177, 217
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
Washington, D.C., 206, 210
Washington State, 209, 211
Weinberg, Wilhelm, 91
West Virginia, 209, 211
White populations
allele frequencies, 20, 22, 91, 97, 101, 112, 151, 153
databases, 93 n.2, 127, 160
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
origins, 99, 151
STR diversity, 119
subgroups, 103-104, 151
Wiener, A. S., 94
Wisconsin, 209, 211
Wright, Sewall, 98-99
Wright's algorithm, 113
Wright's fixation index, 102, 123
Wyoming, 209, 211
Representative terms from entire chapter:
vntr typing
