Advances in Forensic Haemogenetics: 15th Congress of the International Society for Forensic Haemogenetics (Internationale Gesellschaft für forensische Hämogenetik e.V.), Venezia, 13–15 October 1993

674 Pages·1994·27.218 MB·English

by  A. Piazza (auth.), Prof. Dr. Walter Bär, Prof. Dr. Angelo Fiori, Prof. Dr. Umberto Rossi (eds.)

Advances in
Forensic Haemogenetics
5
15th Congress of the
International Society for Forensic Haemogenetics
(Internationale Gesellschaft fUr forensische Hfunogenetik e. v.)
Venezia, 13-15 October 1993
Edited by W. Bar, A.Fiori and U. Rossi
Springer-Verlag
Berlin Heidelberg New)f}rk
London Paris Tokyo
Hong Kong Barcelona
Budapest
Prof. Dr. Walter Bar
Institut fur Rechtsmedizin
Universitat Zurich-Irchel
Winterthurerstrasse 190
CH-8057 Zurich, Switzerland
Prof. Dr. Angelo Fiori
Istituto di Medicina Legale
Universita Cattolica del Sacro Cuore
Largo Francesco Vito 1
1-00168 Roma, Italy
Prof. Dr. Umberto Rossi
Servizio Ematologia e Centro Trasfusionale
Ospedale Civile Legnano
1-20025 Legnano (Milano), Italy
With 249 Figures
ISBN-13 :978-3-540-57643-3 e-ISBN-13 :978-3-642-78782-9
DOl: 10.1007/978-3-642-78782-9
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Preface
This volume comprises the Proceedings of the 15th Congress of the International
Society of Forensic Haemogenetics (ISFH), held for the first time in Venezia Lido,
Italy, on 13th-15th October 1993.
The abstracts of the scientific contributions sent to the Congress have been sub
divided into chapters with numbers and headings corresponding to the Congress
sessions listed in the final programme. A general index of all authors, in alpha
betical order, is given at the end of the book.
The book consists of 188 contributions and addresses several problems
presently being discussed in forensic haemogenetics. The main portion is, of
course, devoted to DNA technology: present and future trends in DNA method
ology, DNA polymorphisms in paternity testing and in criminal investigation,
DNA sequencing, PCR methodology, quality control and quality assurance. Data
have been accumulated on population genetics and biostatistics. A new look has
been given at old friends, with important contributions on the molecular biology
of classical markers. Conventional genetic markers have been studied. Problems
connected with genetic typing and human rights have been dealt with in depth,
and the history and geography of human genes have been elucidated.
As President of the Congress Organizing Committee I am greatly indebted not
only to my co-editors Walter Bar (ISFH President) and Angelo Fiori (Congress
President), but also to the other members of the ISFH Board and Scientific
Committee (Bernd Brinkmann, Bruce Budowle, Patrick Lincoln and Wolfgang
Mayr), to Gianalfredo Sciorelli and the Organizing Secretariat of the "SIITS
AICT Servizi", and to all other Italian colleagues of the Organizing Committee.
All of them helped me in many ways in the preparation of the Congress and in
the organization of the submitted scientific material, and I consider all of them
co-editors in spirit of the present Proceedings.
Umberto Rossi
Contents *
Preface
Opening lecture
History and geography of human genes
A. Piazza ....................................................... 3
1. Genetic typing and human rights
DNA - A human rights profile
P. Thornton .................................................... 15
The association of individual sociodemographic factors
with paternity test results
R. Walker, M. Coffey, and R. Kodali ................................... 23
The expert's evidence and the judge's evaluation
of all information in court decisions
K. Hummel ..................................................... 26
Ethical considerations about unexpected facts disclosed during genetic
association studies
N.N.R. Salaru, M.A. v'R. Barros, and S.S. Rubinstein ....................... 32
2. Molecular biology of classical markers
Molecular analysis of classical red cell markers
D.A. Hopkinson ................................................. 37
The molecular genetics of HLA
W.R. Mayr and D. W.M. Schwartz .................................... 45
* The lectures of invited speakers are in boldface, oral communications in normal type, and posters
in italics (listed in alphabetical order by first author).
VIII
A new look at old friends: the molecular biology of the protein markers
G.F. Sensabaugh ................................................ 50
The molecular basis of the "red cell" acid phosphatase polymorphism
J. Dissing ......................................... '. . . . . . . . . . . .. 57
Human red cell acid phosphatase (ACP 1): genetic typing at the DNA level
K.D. Ayer Lazaruk and G.F. Sensabaugh ................................ 65
Molecular analysis of esterase D polymorphism
S. Tsuchida. E. Fukui. and S. Ikemoto .................................. 68
3. Quality control and quality assurance
Quality assessment as an essential tool
for the achievement of total quality
J.F.A. Stivala ................................................... 73
Quality control of paternity investigations in Scandinavia
B. Lindblom, N. Morling, and B. Teige ................................. 81
Comparison of DNA-profiling and classical blood grouping in criminal cases
B. Eriksen, l. Dissing, M. Thymann. and O. Svensmark ..................... 84
Fluorescent based typing of two short tandem repeat loci in a Swedish
population sample and reproducibility off ragment size estimates
S. Holgersson. l. Karlsson, A. Kihlgren, B. Rosen. and P. Savolainen ........... 87
Restriction fragment length polymorphism: image analysis
and molecular weight calculation with a scanner-based computer system
C. Luckenbach. A. Luckenbach. A. Grathwohl. and H. Ritter ................. 90
Quality control: interlaboratory comparison of RFLP results
O. Svensmark and B. Eriksen ........................................ 93
An optimised chemiluminescent detection system:
is it compatible with data generated using 32p and a different ladder?
l.A. Thomson and Y.D. Syndercombe Court .............................. 96
4. DNA methodology: present and future trends
DNA variation and its analysis by hybridisation
to olygonucleotide arrays
E.M. Southern ................................................. 103
IX
Simultaneous analysis of STR and VNTR polymorphisms
A. Lango, A.M. Ekdal, L. Nyberg, and B. Lindblom ....................... 109
Streamlining VNTR analysis.
A fast procedure for non isotopic DNA profiling
I. Balazs, 1. Neuweiler, K. Kowalski, and 1. Victor ........................ 112
Nonradioactive approach to type DNA by minisatellite variant repeats
A. Hinney, C. Luckenbach, C. Durr, S. Rodewyk, R. Poltl, and H. Ritter ........ 115
Minisatellites of the Y chromosome
P. Fattorini, F. Florian, M. Vatta, F. Cossutta, F., De Cristini, B.M. Altamura,
and G. Graziosi ................................................. 118
Anomalous electrophoretic behaviour of HUMACTBP2 (SE33)
M. V. Lareu, c.P. Phillips, C. Pestoni, F. Barros, 1. Munoz, and A. Carracedo .... 121
Evaluation of the tris-glycine!tris-chloride discontinuous buffer system
for the electrophoretic analysis of VNTR and STR loci
A. Alonso, P. Martin, C. Albarran, and M. Sancho ........................ 124
Multilocus profiles of the Basque country population
with dig-labelled probes 33.15 and 33.6
S. Alonso, A. Castro, l. Fernandez-Fernandez, C. Barbero, A. Garda-Orad, P. Arizti,
G. Tamayo, and M.M. De Pancorbo 127
Use of chemiluminescent labeled probes for forensic
and paternity determinations
M. Baird, L. Galbreath, R. Cunningham, 1. Lastella, and l. Balazs 130
Three VNTR and Y-chromosome identification from biological stains
L. Caenazzo, C. Crestani, NA. Greggio, E. Ponzano, G. Bonan, and P. Cortivo 133
Application of the capillary DNA chromatography in the paternity testing
using APOB amplified alleles
F. Capon, G. Novelli, and B. Dallapiccola 136
Automated laser fluorescent analysis of amplified fragment
length polymorphisms and short tandem repeats
M. Dobosz, VL Pascali, I. Boschi, E. D'Aloja, and A. Fiori ................ 139
Further characterization of the VNTR probe LH1 (D5S11O)
and applications for DNA typing
A.l. Eisenberg, M. Clement, R.A. Bever, M.E. Gaskill, D.P. Carlson,
and L. Klevan 142
x
Method for the evaluation of C-bands heteromorphism
in human chromosomes by image processing (J.P.)
M. Esposito, P. Grammatico, G. Quaremba, C. Pagano, E. Morrone, G. Del Porto,
and C. Romano 145
Polymorphism of the DI S80 locus in Basque country population
and its forensic application
l. Fernandez-Fernandez, A. Castro, S. Alonso, C. Barbero, A. Garda-Orad,
P. Arizti, M. Portuondo, G. Tamayo, and M. M. De Pancorbo ............... 148
Studies on sex determination with different Y-specific probes
after quantifying human genomic DNA
with the slot blot hybridization method
H. Haas, W. Hofmann, and G. Weiler ................................. 151
Typing human DNA using capillary electrophoresis:
comparison of slab gel and capillary formats
M.M. Holland, L.A. Turni, S. Delrio, M. Marino, R.S. Lofts, D.L. Fisher,
I. Ross, I. W. Schumm, and P.L. Williams 156
Comparison of DNA-extraction methods from compact bone tissue
K. Lalu, P.I. Karhunen, and A. Sajantila ............................... 160
DNA-profiling on carpeting-
Methods of purification, restriction and detection
I. Lotterle and M. Hantschel ....................................... 164
DNA-extraction for PCR: phenol-chloroform vs. chelex-
A comparative study
I. Schnee-Griese and S. Linder ...................................... 167
Simple and rapid typing for VNTR polymorphisms using high resolution
electrophoresis of PCR products on rehydratable polyacrylamide gels
D. w.M. Schwartz, E.M. lungl, O.R. Krenek, and W.R. Mayr ................. 170
DNA typing of coagulation factor XIII "a" subunit by PCR-RFLP and SSCP
K. Suzuki, S. Ito, K. Matsui, K. Fujita, T. Miyazaki, H. Matsumoto, and Y. Mizoi 173
Two different mechanisms are involved in the polymorphism shown by
the locus D2S44
E. Valverde, C. Cabrero, A. Dfez, M.S. Rodriguez-Calvo, I. Alemany,
and A. Carracedo 176
XI
5. DNA polymorphisms in paternity testing
Paternity testing by oligonucleotide DNA fingerprinting:
a multi-centre study proving reliability and validity
I. Bohm, M. Krawczak, P. Niirnberg, J. Hampe, J. Hundrieser, H. Poche,
Ch. Peters, R. Slomski, J. Kwiatkowska, M. Nagy, A Popperl, J.T. Epplen,
and J. Schmidtke ................................................ 181
Population genetic studies of short tandem repeat loci (STRS):
efficiency in paternity testing
AP. Pai, T. Jackson, D.J. Pritchard, and S.S. Papiha ...................... 184
Application of a Y -linked tetranucleotide repeat polymorphism
to paternity cases
E. Trabetti, A. Casartelli, and P.F. Pignatti ............................. 187
Clarification of a paternity case with the mother, two children
and the mother of the putative father
V. van Huffel, P. Rouger, and W.R. Mayr .............................. 190
Analysis of the locus D1S80: frequency distribution
in North-East England and application to paternity testing
S.S. Papiha and M. Thymann ....................................... 193
An unusual case of failed vasectomy confirmed by DNA profiling
J.A. Thomson, P.J. Lincoln, and Ph. Mortimer ........................... 196
Development and validation of buccal swab collection methods
for DNA testing for paternity testing
R.A Bever and M.A. De Guglielmo ................................... 199
Application of conventional and DNA polymorphism to paternity cases
C. Crestani, L. Caenazzo, E. Ponzano, G. Bonan, and P. Cortivo ............. 202
DNA typing - Strategies in paternity and forensic casework
E.D. Du Toit, B. Arendse, S. Reavis, M. Jacobs, T. Schlaphoff, and J. Rousseau ... 204
Parentage control in cattle by genotyping microsatellites
M.-L. Glowatzki-Mullis and R. Fries .................................. 207
Paternity testing with DNA systems: application of DIS80 phenotyping
to Danish paternity cases analysed with five VNTR single locus systems
H.E. Hansen and M. Thymann ...................................... 210
peR polymorphisms compared to other genetic markers
in the paternity testing
E. Huguet, M. Gene, J. Medallo, C. Sanchez Garda, J. Corbella,
and J. Mezquita ................................................. 214
XII
Case report of a disputed paternity with no biological sample
from the putative father
I. Lopez-Abad(a, M.A. Mart(nez, A. Gremo, and J.M. Ruiz De La Cuesta 217
Paternity testing of endangered species of birds by DNA fingerprinting
and random amplified polymorphic DNA fingerprinting
J. Mathe, C. Eisenmann, L. Konrad, G. Weyland, and A. Seitz 220
Characterization of three microsatellites and their application
in paternity testing
E. Molteni, F. Laface, S. Sirchia, and G. Colucci ......................... 223
Paternity testing in Italy using minisatellite variant repeat (MVR)
G. Novelli, S. La Cicero, I. Torrente, P. Fucci, and B. Dallapiccola 226
PCR-based analysis of HLA-DQa, DIS80 and Apo B loci in paternity testing
J. Reinhold and J. Arnold .......................................... 229
Proving paternity using formalin fixed, paraffin embedded tissue samples
from a deceased father
A. Sajantila and M. Lukka 232
Application of single-locus probes in cases of disputed paternity.
The usefulness of the combination of HLA and DNA
C. Seidl, U. Rabold, B. Briiggemann, M. Kilp, D. Teixidor, and E. Seifried 235
Expertise report in disputed paternity cases with two or more children
A.L. Simoes and N.N.R. Salaru ...................................... 240
6. DNA polymorphisms in criminal investigation
RFLP typing: a new highly polymorphic VNTR locus
and chemiluminescent detection
B. Budowle, L. Klevan, and A.J. Eisenberg ............................ 245
Evaluation of Amp-FLP markers
and summary of PeR-based forensic casework
M.A. De Guglielmo, J.M. Rader, and R.A. Bever ......................... 253
Investigations on vaginal cell/sperm mixtures from microscopical slides
P. Wiegand, M. Madeja, and B. Brinkmann ............................. 256
Dealing with human remains sampled in disaster areas.
The case of the Israelian embassy explosion occurred in Buenos Aires
D. Corach, G. Penacino, and A. Sotelo ................................ 259