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 Proceedings of the 18th International ISFH Congress, San Francisco, 17-21 August 1999
Edited by
G.F. Sensabaugh, University of California, Forensic Science Group, School of Public Health, Berkeley, CA, USA
P.J. Lincoln, St. Bartolomew's and The Royal London School of Medicine and Dentistry, Department of Haematology, London, UK
B. Olaisen, Institute of Forensic Medicine, University of Oslo, Norway
Included in series
International Congress, 1193
Description
"Forensic Genetics: Looking Toward the 21st Century," is the theme of the 18th Congress of the International Society for Forensic Haemagenetics
(ISFH) held in San Francisco, August 1999.
Up to date, state of the art reports covering all aspects in the field of genetic markers
application to problems of identification are contained in this 8th volume of Progress in Forensic Genetics (ICS 1193). Representatives
from leading laboratories in the field and renowned experts from all over the world covered the latest trend in practical applications
of new technologies and contributed valuable information based on author's experiences in casework and insights into future diversions.
Topics discussed included the current transition state of forensic genetics, population studies and DNA databasing, emergence of DNA
technology, DNA profiling, and revelations of ongoing human genome research.
New techniques for genetic testing have become faster,
cheaper and more capable of sensitive analysis. The unique specification of an individual through genetic testing has now become a reality
and has certainly set the trend for the new millennium.
Audience
Forensic scientists
Contents
New Directions in Forensic Genetics.
The genetics of appearance
(D. Hopkinson et al.).
Helter skelter: the genetics
of psychiatric disorders and behavioral traits
(L. A. McInnes).
MALDI-TOF mass spectrometry
(J. M. Butler).
Molecular Biology of
Genetic Markers.
Mutational events at human micro- and minisatellite loci: mutation rates and new STR-alleles
(E.M. Dauber et
al.).
Mitochondrial DNA genetics: implications for forensic casework
(G. Tully et al.).
Investigation of donor age
using telomere lengths from simulated biological samples
(J. Jefferies et al.).
Red cell acid phosphatase (ACP1): nucleotide
substitutions in variant alleles support mutually exclusive splicing model for the generation of fast and slow isoforms
(L. Rudbeck et
al.).
Chromosome localization of CODIS loci and new pentanucleotide repeat loci
(J.W. Bacher et al.).
Somatic and germinal
mutations in STRs
(A. Amorim, C. Alves, L. Gusmão).
The Swissair flight 111 disaster: short tandem repeat mutations observed
(C.J. Frégeau et al.).
DYS393 and its X chomosome counterpart
(B.Myhre Dupuy, T. Gedde-Dahl Jr., B. Olaisen).
MVR-PCR
of minisatellite locus DYF1555S1 and typing of the deletion polymorphism in locus DYF155S2 in a Norwegian population sample
(R. Andreassen,
B. Olaisen).
DNA databasing on FTAR paper: Biological assault and techniques for measuring photogenic damage
(L.H. Seah,
L.A. Burgoyne).
DNA damage in forensic samples
(P. Fattorini et al.).
Forensic Statistics and Interpretation.
Mixed
stains: biostatistics of 'incomplete' DNA-profiles
(W. Bär, N. Fukshansky).
Distributions of the number of alleles identical by
state (IBS), summed over several loci, among full-sib pairs and unrelated individuals
(S. Presciuttini et al.).
Enhanced kinship
analysis and STR-based DNA typing for human identification in mass disasters
(B. Leclair et al.).
Kinship analysis by DNA
when there are many possibilities
(C.H. Brenner).
Mixed stains: testing of relatives in the situation of a non-seizable suspect
(W.
Bär, N. Fukshansky).
Is it possible to determine the ethnic origin of caucasian individuals using short tandem repeat loci?
(M.
Klintschar et al.).
The use of relatives genotypes in statistical identification of missing individuals
(F. Corradi, G. Lago).
Population Genetics and Evolutionary Biology.
Summary of polymorphic STR allele frequencies and Y chromosome haplotype frequencies
(C.H. Brenner).
Short Tandem Repeat Polymorphisms.
Allele distribution at nine STR loci - D3S1358, vWA, FGA, TH01, TPOX, CSF1PO,
D5S818, D13S317 and D7S820 - in the Estonian population
(A. Aaspõllu, I. Sumeri, M. Kelve).
DNA-database in the Finnish population
using AmpF/STR profiler and AmpF/STR SGM plus multiplex analysis by capillary electrophoresis
(H. Sippel, M. Hedman, A. Sajantila).
The forensic validation studies of profiler plusJ and allele frequencies of profiler loci in a Polish population
(R. Pawlowski, A. Maciejewska).
Western German population data for the two highly-polymorphic STR-loci D21S11 and FGA and sequence data for rare FGA-alleles
(P. Schroer,
C. Schmitt, M. Staak).
On population genetics and family data of the human short tandem repeat polymorphism D5S2360
(J. Henke et
al.).
STR locus D8S1132: population and sequencing studies in Austrian caucasoids and pan troglodytes
(B. Glock et al.).
Denaturing versus non-denaturing electrophoresis for D21S11 and additional sequence and population data
(E.M. Dauber et al.).
Population genetic data on 5 autosomal and 8 Y-chromosomal STR loci in 2 Hungarian populations
(S. Furedi et al.).
Frequency
data, mutations and allele structure of loci D3S1744, D12S1090 and D18S849 in the Flemish population
(G. Mertens et al.).
An
archive of Italian gene frequencies in the World Wide Web
(R. Maviglia et al.).
Allele frequencies of 9STRs in Italian population
by AmpF/STR profiler plus using capillary electrophoresis
(R. Biondo, P. Montagna, A. Spinella).
Allele frequencies of the HUMTH01,
HUMVWA31/A, HUMFES/FPS, HUMF13A1 loci in Tuscany (Italy)
(R. Domenici et al.).
Gene Print™ Silver™ III Multiplex
(D16S539 D7S820 D13S317): Population genetic data from Northern Italy
(N. Cerri et al.).
Distribution of the two STR systems
HumMBP and D19S253 in Northern Italy
(E. Ponzano et al.).
Italian population study from forensic casework on 6 str loci
(G.
Iacovacci et al.).
Allele and genotype frequencies of two STR loci (HUMTH01, HUMvWA) in the Northwest Italian population
(C.
Robino, S. Gino, C. Torre).
Population genetics of fourteen STR loci in North-East Italy
(F. Cossutta et al.).
Microsatellite
DNA and forensic parameters in isolated populations
(M.M. de Pancorbo et al.).
Population genetic study of 9 STR loci using
Amp/FSTR profilerplus kit and capillary electrophoresis: Distribution of allelic frequencies in 20 Italian towns: Agrigento, Caltanissetta,
Catania, Palermo, Ragusa, Siracusa, Messina, Reggio, Calabria, Catanzaro, Cosenza, Bari, Napoli, Roma, Firenze, Venezia, Parma, Bologna,
Milano, Torino, Genova
(A. Barbaro et al.).
Genetic analysis of the short tandem repeat loci D16S539, D7S820, D13S317, D18S535,
D1S1656 and loci D12S391 in two Spanish populations
(B. Martínez-Jarreta et al.).
Allele frequency distribution of D8S1179,
D21S11, D18S51 and D16S539 in a southern Spain population
(I. Flores et al.).
Catalonia population study of the STR loci: D5S818,
D13S317 and D7S820 performed by PCR and monochrome automated laser fluorescence sequencer
(M. Gené et al.).
Allele
frequency distribution of D5S818, D13S317, and D7S820, in a southern Spain population
(Y. Torres et al.).
Allele frequency
distribution of seven STRs in a Canary Islands population (Spain)
(I. Frias et al.).
North Portugal population genetic data
for nine STRs loci
(M.F. Pinheiro et al.).
Allele frequencies of STR multiplex systems in two Portugese population samples
(M.J. Anjos et al.).
Comparative analysis of STR data for Portugese spoken countries
(F. Corte-Real et al.).
STR
(autosomal and Y-chromosome) analysis reveals deographic differences in the Turkish population
(R. Decorte et al.).
A study
on the short tandem repeat systems TPOX and D8S1132 in Austria, Yemenian and Egypt
(M. Klintschar, A. Ebner, B. Reichenpfader).
Moroccan
population alleles frequency on 9 PCR-based loci
(C. Brandt-Casadevall et al.).
Analysis of allele distribution for nine short
tandem repeat loci in Autochthonous Canary Islands and immigrant Central West African populations
(J.J. Gamero et al.).
The
distribution of D1S1656 system frequencies in two African Immigrant populations and two populations in South-West Spain
(J.J. Gamero et al.).
African population genetic data with AmpFISTR® Profiler Plus™
(R. Espinheira et al.).
Bubi population
(Equatorial Guinea) characterised by D3S1358, D8S1179, D18S51 and D19S253 STR-PCR polymorphisms
(E. Huguet et al.).
Genetic
analysis of AmpFlSTR Profiler Plus loci in Japanese
(S. Nakamura et al.).
Allele frequencies at 13 STR loci in the Burmese
population
(T. Yamamoto et al.).
Polymorphisms of 13 STR markers in Chinese population
(Y. Hou et al.).
Genetic and
sequence polymorphism of 3 short tandem repeats (STRs) in Japanese; D21S11, D18S51 and D8S1179
(M. Hashiyada et al.).
Polymorphism
at four TGGA repeat sites in the myelin basic protein gene
(J. Tie, S. Tsukamoto, S. Oshida).
Genetic variation at 9STR loci in a southwestern
Colombian population
(M.V. Gómez et al.).
Y Chromosome Polymorphism.
Y-chromosomal haplotypes and haplogroups
in male identification
(C. Previderè et al.).
Y chromosome variation in a Norwegian population sample
(B. Myhre Dupuy et al.).
Y chromosome lineages in Iberians: Construction of highly informative haplotypes using biallelic markers, STRs and
the minisatellite MSY1
M. Brión et al.).
Haplotype distribution of four Y chromosomal STR loci in the east Asian populations
(K. Umetsu et al.).
Population study and paternity testing of seven Y-chromosome STR-loci in an Italian population sample
(A.
Tagliabracci et al.).
Chromosome Y STRs analysis and evolutionary aspects for Portugese spoken countries
(F. Corte-Real et
al.).
A survey of nine Y-STRs as forensic identification markers in the population of Tuscany (Central Italy)
(U. Ricci et
al.).
A genetic-population study of the DYS385 system in samples of the autochthonous population of the Canary Islands, the population
of SouthWest Spain and the West African Immigrant population in Spain
(J.J. Gamero et al.).
Gradient of Y chromosome haplogroup
21 across the Western Iberia
(L. Pereira et al.).
A new method for analysing variation from PCR-MVR data: analysis of the MSY1
minisatellite
(M. Brión et al.).
PCR-RFLP Y-polymorphisms and their application to a Northern African population
(B.
Caeiro et al.).
UK Caucasian databases for six Y chromsome STRS
(C.P. Phillips et al.).
Population genetics of Y
- chromosomal haplotypes in Western Saxony (Germany)
(R. Lessig, J. Edelmann).
Segregation of Y-chromosomal STR haplotypes
(L. Henke et al.).
Analysis of five Y chromosomal STRs in three populations
(B. Reichenpfader, N. Al Hammadi, M. Klintschar).
Y chromosome
polymorphisms: a comparison between Azores and continental Portugese sample
(M. Carvalho et al.).
Y-chromosome STR halotypes
in an Spanish population sample
(M. Aler et al.).
Differential Y-STR haplotypes distribution in Argentina
(D. Corach, A. Sala,
G. Penacino).
Population genetic study of Y chromosome specific STR-loci in a population sample from Southern Poland
(T. Kupiec et
al.).
Polymorphisms of chromosome Y specific short tandem repeats in a Chinese population
(Y. Hou et al.).
Allele frequencies
of four y-chromosomal str loci in Japanese population and their repeat structures
(R. Mukoyama et al.).
Distribution of a C-to-T
polymorphism in the sex-determining region Y (SRY) gene
(I. Yuasa et al.).
Y chromosome STR haplotypes in Macau (SE China)
(L. Gusmão et al.).
Mitochondrial DNA.
mtDNA hypervariable region II (HVII) sequences in human evolution studies:
impact of mutation rate heterogeneity
(A. Salas et al.).
Sequence analysis of mitochondrial DNA (mtDNA) control region in
Aragon (North Spain). An anthropological view.
(A. Prades et al.).
Mitochondrial DNA variabilty on d-loop in 46 unrelated
individuals living in andalusia (south of Spain)
(M. López-Soto, P. Sanz).
Analysis of mitochondrial DNA hypervariable regions
I and II in a North Portuguese population
(L. Pereira, M.J. Prata, A. Amorim).
Polymorphism of mitochondrial DNA: creation of a database
of genotype frequencies in a population sample from Central Italy
(L. Buscemi et al.).
Polymorphism of the mitochondrial DNA
control region in the Polish population
(T. Kupiec, W. Branicki, R. Pawlowski).
mtDNA HVR I and II sequence database of Argentina
(A.
Sala, G. Penacino, D. Corach).
Other Markers.
Frequency of ABO alleles in a population sample of northern Germany
(A. Pahl,
H. Tewes, H.H. Hoppe).
Inter-alpha-trypsin inhibitor polymorphism in southwestern Japan: geographical clines of allele frequencies in
Japanese populations
(K. Ago et al.).
El Salvador (Central America) population data for the D1S80 and D17S5 (YNZ22) loci
(J.
Morales et al.).
Paternity Testing.
DNA and legal rights in paternity testing in Germany
(C. Rittner, G. Rittner,
P.M. Schneider).
Fatherless cases in our paternity expertises praxis
(Z. Sieglová et al.).
Efficiency of the profiles
PCR systems compared to the profiler plus PCR systems in cases of disputed paternity
(A. Kratzer et al.).
Validation of multiplex
STR systems for the investigation of parentage and other familial relationships
(J.A. Thomson et al.).
Analysis of STR and
application to paternity testing
(A. Sawaguchi et al.).
Practical application of DNA study for forensic genetic analysis, in
complex situations involving presumed incest as cause of mendelian disorders
(S. Guarducci et al.).
How many STR markers are
enough for paternity identification
(Y. Hou et al.).
Structure of rare alleles of locus HPRTB in the Hungarian population
(A.
Vandenberghe et al.).
Stopping percentage tests at a probability of paternity of 99% clinical studies show potential for false
positive results
(E. Panke, E. Schurdak, L. Leopold).
A case of paternity attribution by means of DNA analysis of skeletal remains
(L.
Buscemi et al.).
Disputed paternity: some problematic cases
(C. Brandt-Casadevall et al.).
Paternal mutation at D3S1358
found in a single exclusion case
(Y. Katsumata et al.).
Forensic inference from incomplete pedigrees by probabilistic expert
systems
(R. Maviglia et al.).
Methods for Genetic Analysis.
An assessment of the utility of SNPs
(P. Gill et al.).
High throughput HLA genotyping of microarrays containing amplified DNA samples with sequence specific fluorescent probes
(I. Balasz et al.).
Protein profiling with allele-specific antibodies
(D.B. Whitehouse et al.).
Rapid and convenient quantification
of human mitochondrial DNA in a real time PCR
(N. v. Wurmb et al.).
Rapid identification of the ABO genotypes by their SSCP
pattern of multiplex PCR products
(J.C.I. Lee, L.G. Kao, A. Linacre).
Study on ACTBP2 mutations in Japanese
(C.-Y. Liu et al.).
The possiblity of forensic application of restrition landmark genomic scanning
(T. Sawaguchi et al.).
Genes and faces: classification
of midline features
(M.C. McCulley, D.A. Hopkinson, D.B. Whitehouse).
Genes and faces: facial form in childhood and adolescence
(R.J.
Hennessy, D.B. Whitehouse, D.A. Hopkinson).
Gender assignment by PCR of the SRY gene: an improvement on amelogenin
(B. McKeown, J. Stickley,
A. Riordan).
Multiplexing Y chromosome STRs: analysis of artificial bands and PCR strategies
(A. González-Neira et al.).
Eight and nine loci str multiplex genotyping with use of 12 cm plates on an abi prism 377J DNA sequencer
(G. Lago et al.).
Multiplex system for amplification and detection of 9 short tandem repeat loci; reproductibility of size measurements with 377 and 310
DNA sequencer
(K. Yoshida et al.).
Simultaneous genotyping of all "CoDIS" loci using GenePrint™ Powerplex™1.2 and
AmpFISTR® profiler plus™ with ABI Prism™ 377 DNA sequencer
(D. Podini et al.).
ACTBP2, D21S11 and D12S391:
Experiences with the ABI Prism™310 genetic analyzer
(A. Junge, M. Steevens, B. Madea).
Automated infrared DNA analysis system
for forensic genetic purposes and genetic diseases (Rett syndrome)
(C. Biondi et al.).
Usefulness of PCR direct sequencing
to analyze short tandem repeat loci
(X.L. Huang et al.).
Simultanous amplification of eight STR-loci in two multiplex PCR-systems
for typing a compound Y-chromosomal haplotype
(M. Hidding, C. Schmitt, M. Staak).
Multiplex systems for Y-STR testing using flourescent
primers: artefacts caused by female DNA
(A. Ishii et al.).
Forensic DNA typing of single hair samples: mitochondrial DNA sequencing
of hypervariable region HV1/HV2
(E. Brignon, C. Bastien, H. Pfitzinger).
A simple but reliable strategy for high through-put processing
of reference samples for DNA intelligence databases
(W. Parson et al.).
VWA STR Genotyping: Inconsistency between Perkin Elmer's
Profiler Plus™ kit and Promega's GenePrint™ CTTv
(C. Alves, A. Amorim, L. Gusmão).
Comparison of two commercial multiplexes
for use in small volume PCR reactions
(C. Thacker, C.P. Phillips, D. Syndercombe Court).
Use of FTA cards in small volume PCR reactions
(C. Thacker, C.P. Phillips, D. Syndercombe Court).
DNA typing of liquid blood samples stored at 4° for 15 years
(S. Gino, C. Robino,
C. Torre).
Identity testing on retention samples of blood donations: a methodical approach
(B. Glock et al.).
Sequence structure
of the three autosomal STR-loci CD4, DHFRP2 and D8S306: a new triplex for forensic casework
(C. Lach, C. Schmitt, M. Staak).
Evaluation
of three different procedures of DNA extraction from parafinned tissues and stained microscopical slides
(N. Cerri et al.).
Improvement in the yield of mitochondrial DNA amplification products: implications for the analysis of old and degraded biological samples
(M. Lorente et al.).
Forensic Applications.
Sexually transmitted microbes as markers in the investigation of child
sex abuse
(B. Hill, B. Brunelle, G.F. Sensabaugh).
Hungarian experience of examination of the fingernails in violent crime
Z. Pádár et al.).
DNA extraction from dissolved nail
(M. Kane, A. Nishimura, K. Nishi).
mt-DNA typing from fingernals by minisequencing
(A. Barbaro, P. Cormaci, A. Barbaro).
Use of latent fingerprints as a source of DNA for genetic identification
(P. Van Renterghem, D.
Leonard, C. De Greef).
DNA typing on latex gloves
(M. Pizzamiglio et al.).
STR typing of biological stains on strangulation
tools
(P. Wiegand, K. Trübner, M. Kleiber).
Identifying the culprit though small amounts of saliva from two different robberies
and use of database
(M. Pizzamiglio et al.).
Sequence and motif analysis of "off ladder" allelic variants at the D1S80 locus
(K. Takayanagi et al.).
A strategy for STR-analysis of cryptic epithelial cells on several textiles in practical casework
(M.M.
Schulz, W. Reichert).
Identification of a decapitated lady found in the fields and her bloodstain in the boyfriend's car
(L.F. Jobim,
M.R. Jobim, L. Fernandes).
Identification of a carbonized body found inside the boot compartment of a burnt car found in a farm
(L.F.
Jobim, L. Fernandes, M.R. Jobim).
DNA typing from hair shift
(A. Barbaro, G. Falcone, A. Barbaro).
Application of Y-STR analysis to
rape cases that cannot be solved by autosomal STR analysis
(P. Martín et al.).
DNA typing of mixed female and male material
from a case of rape
(M. Pizzamiglio et al.).
Of calves and men - a fraud case with final surprise
(I. Boschi et al.).
Reliable identification of human skeleton remains by mtDNA sequence analysis
(K. Bender et al.).
Casework experience: identification
of human remains
(M. Crespillo et al.).
Postmortem human microsatellite stability in different tissues
(P. Hoff-Olsen et
al.).
Mitochondrial DNA sequencing in casework: sequence and length heteroplasmy and other issues of forensic significance
(A.
Alonso et al.).
Determination of three STR loci, vWA, TPOX and F13A01, in aged seminal stains
(A. Kido et al.).
Discrepant
results of ABO blood grouping obtained by serologic and PCR techniques from highly putrefied semen
(Y. Itoh et al.).
Extraction
of DNA from decomposed human tissue. An evaluation of five extraction methods for short tandem repeat typing
(P. Hoff-Olsen et al.).
Megaplex analysis of brain remains from the necropolis of Adaïma (Egypt, 3700-2800 BC)
(I. Clission et al.).
Researching
ambiguous sex cases in ancient skeletons of the series of Coimbra (Portugal)
(M.L. Fily et al.).
Short tandem repeat analysis
to monitor chimerism after allogeneic stem cell transplantation
(M. Nagy et al.).
Analysis of chimerism after allogeneic bone
marrow transplantation by short tandem repeats
(L. Caenazzo et al.).
Evaluation of chimeric status following allogenic bone
marrow transplantation using short tandem repeats
(W. Keil et al.).
Medical malpractice, metaphase spreads and STR-PCR: A case
report
(A. Piccinini et al.).
Influence of Lewis blood group genotypes for CA19-9 levels in urine and serum from urologic disease
(K. Nagao, Y. Itoh, M. Fujime).
Length heteroplasmy within the HVII region of the mitochondrial DNA
(F. Heidorn et al.).
Somatic
instability of six STR-loci in renal tumors and melanomas
(P. Pennekamp et al.).
DNA polymorphism of sertonin transporter
and serotonin 2A receptor
(A. Nishimura et al.).
Estimation of postmortem interval using DNA analysis
(D. Vaněk, M.
Pospíŝek).
Databases, Quality Assurance, and Other Contributions.
Y chromosome specific STR testing and the US
legal system
(M. Prinz et al.).
Missing people identification in Spain: the Phoenix project
(J.A. Lorente et al.).
Implementation of quality assurance in molecular diagnostics
(F. Guidet et al.).
Grading of quantitative data in the CAP/AABB
parentage testing program
(R.W. Allen et al.).
Paper problems to evaluate parentage laboratory proficiency
(H.F. Polesky et
al.).
Systems reported by laboratories participating in the AABB/CAP parentage testing program; 1993-1998
(H.F. Polesky et
al.).
The short history of DNA analyses used for solving paternity cases and establishing external quality assessment in the Czech
Republic
(R. Brdička, Z. Sieglová, M. Loudová).
Homologous STRs in the X and Y chromosomes: a contribution to understanding
human sexual chromosomes evolution
(L. Gusmão et al.).
Caucasian Y-STR haplotype reference datase for forensic application
(L. Roewer et al.).
Genetic databases: past, present and future. Criminal databases in forensic sciences.
(M. Lorente et
al.).
The rotating analyst - the NYC OCME casework system
(M. Samples et al.).
Report of three further collaborative exercises
on STR loci by the Italian Group of Forensic Hematology
(F. D'Aloja et al.).
Report of the first latin american collaborative
quality control exercise on forensic dna typing
(D. Corach, G. Penacino, A. Sala).
Index of authors.
Bibliographic & ordering Information
Hardbound, 656 pages, publication date: MAR-2000
ISBN-13: 978-0-444-50303-9
ISBN-10: 0-444-50303-X
Imprint: EXCERPTA MEDICA
Price: Order form
USD 167
GBP 111.50
EUR 167
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Last update: 25 Aug 2008
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