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 Proceedings of the 17th International ISFH Congress, Oslo, Norway, 2-6 September 1997
Edited by
B. Olaisen, Institute of Forensic Medicine, University of Oslo, Norway
B. Brinkmann, Institut für Rechtsmedizin, University of Münster, Germany
P.J. Lincoln, Department of Haematology, St. Bartholomew's & The Royal London School of Medicine and Dentistry, UK
Included in series
International Congress, 1167
Description
The genetic markers now used in problems of identification; such as parentage testing and forensics, have moved almost exclusively from
the classical protein markers, known collectively as blood groups, to variation polymorphisms directly detectable in the DNA. Moreover,
the extensive knowledge and application of VNTR polymorphisms detected using firstly multilocus probe and then single locus probe technology,
has now been largely replaced by polymorphisms detected using PCR technology which can utilize far less material and degraded DNA.
In this volume it can be seen that the general focus of the forensic science community seems to have gradually turned over the last two
years from the investigation of new autosomal markers and population databases, to accelerating exploitation of modern technology and
informative new markers in forensics casework. There is no obvious increasing interest in the polymorphism displayed by mtDNA, in Y-chromosome
genetics and the recent history of populations. As well as there being papers on methodologies, there are papers on forensic applications
to casework and the problems experienced, the application of newly discovered polymorphisms, and the distribution of these in populations,
on mitochondrial DNA and on Y chromosome genetics. There are also sections on DNA Intelligence databases, Forensic Statistics and Quality
Systems.
The book will provide up to date information for all scientists (researchers, students and those involved in casework) in
the field of application of genetic markers to problems of identifications.
Audience
Forensic Scientists, Researchers, Students and Scientists involved in use of genetic markers in problems of identification
Contents
Methodology.
High throughput DNA genotyping on Capillary Array Electrophoresis chips (G.F. Sensabaugh et al.).
Detection
of a DNA sequence by Surface Enhanced Resonance Raman Scattering of a modified DNA probe (N.D. Watson et al.).
Determination
of the mtDNA content in a human hair by using a quantitative PCR assay
(R. Decorte et al.).
Separation of sperm and vaginal
cells from postcoital swabs using Fluorescence Activated Cell Sorting (FACS) for forensic purposes
(M. Klintschar, W. Schöll, D.
Strunk).
Evaluation of two GENEPRINT™ fluorscent STR multiplex systems in paternity case work using the ABI 310 genetic
analyzer
(P.H. van Eede, E.P.M. Stoltenberg, G.G. de Lange).
D1S80 typing in casework: A simple strategy to distinguish non-specific
microbial PCR products from human alleles
(A. Fernandéz-Rodriguez et al.).
D1S80 subtyping with PCR-RFLP method using
ECORII (H. Fukushima et al.).
A simple foldable swab box for the drying and storage of biological material recovered on cotton
swabs
(B.S. Gehrig et al.).
Optimization of nested PCR of the HV1 region in human mitochondrial DNA using the Amplitaq Gold™
enzyme
(K. Hedberg, M.-L. Wiklund, S. Holgersson).
Universal method of hypersensitive nested PCR toward forensic DNA typing
(K. Honda et al.).
Using D3S1358 for quantification of DNA amenable to PCR and for genotype screening
(A. Kihlgren, A. Beckman, S.
Holgersson).
Analysis of STRs by Capillary Electrophoresis
(M. Crespillo et al.).
Validation of FESFPS and F13A01 typing
using Capillary Electrophoresis
(P. Sanz, V. Prieto, M.I. Andres).
High througput silver stain multiplex STR analyses
(J.W. Schumm et al.).
Automated fluorescent detection of 8-locus and
4-locus STR multiplexes
(J.W. Schumm et al.).
Capillary
Electrophoresis (CE). Studies on accuracy and reproducibility in DNA sizing
(A. Tagliabracci et al.).
Simultaneous detection
of ABO genotypes and an X-STR
(Z. Tun et al.).
Infrared fluorescence detection of genetic markers from forensic samples
(R. Roy, D.L. Steffens).
DNA profiling of azoospermic semen after detection by a new rapid strip-test for prostate specific antigen
(B. Hoste et al.).
Forensic Application.
Capillary Electrophoresis for forensic DNA typing analysis (B. Budowle,
A. Isenberg).
A strategy for mt-DNA analysis of hair shafts in practical casework: RE-SSCP
(M.V. Lareu et al.).
Short tetramers
for weak stains - A test of three STRs
(B. M. Dupuy et al.).
Screening for mitochondrial DNA sequence variation by SSCA
and HE: Applications in Forensic Genetics
(A. Alonso et al.).
Rapid mitochondrial DNA typing by solid-phase
minisequencing:
Forensic applications
(G. Tully et al.).
Mitochondrial DNA analysis of individuals from a mass grave
(W. Goodwin, G. Curry, P Vanezis).
Identification of human remains: Short tandem repeat analysis versus mitochondrial DNA
(C. Augustin, E. Grossevollmer,
K. Puschel).
Identification of a missing Italian soldier of the World War II (Boschi et al.).
Application of conventional
and DNA polymorphisms to paternity cases
(R. Domenici et al.).
DNA Analysis of 1162 parentage cases
(A. Kratzer, S. Furling,
W. Bar).
Evaluation of Prostate - Specific Antigen (PSA) membrane tests for the forensic identification of semen
(C. Gehrig et
al.).
Forensic DNA typing of a single hair: Mitochondrial DNA sequencing and highly discriminating STR multiplexes
(T. Grzybowski
et al.).
Fingerprints from fingernails?
(C. Capelli , D. Hall, R. Maviglia).
Comparative analysis of ABO typing by both DNA and
serological analysis from highly putrefied semen
(R. Kobayashi et al.).
DNA analysis on skeletal remains after months of
permanence in sea-water
(G. Lago et al.).
Urine evidence left on crime scene a robbery
(G. Lago et al.).
Alternative
source of DNA in cloths specimens
(G. Lago et al.).
Newborn genetic identification: Expanding the fields of forensic haemogenetics
(J.A. Lorente et al.).
Double paternity in twins
(J.A. Lorente et al.).
Minimal amounts of DNA: Improving the results
of the analysis in forensic casework
(M. Lorente et al.).
Dandruff as a source of DNA: Validation studies
(M. Lorente et al.).
Maternity exclusion of skeletal remains by mtDNA minisequencing
(A. Mannucci et al.).
STR analysis of
semen contained in vaginal swabs and postcoital interval
(V. Morhart et al.).
Forensic application of human DNA quantitation:
Species identification and DNA quantitation in dental pulp
(R. Mukoyama et al.).
DNA microsatellite polymorphisms and the
syringe exchange programme for aids prevention
(M. de Pancorbo et al.).
Newborn genetic identification by microsatellite DNA
(M. de Pancorbo et al.).
Hypervariable mitochondrial DNA sequences analysis of various samples in a forensic casework
(E.
Brignon, H. Pfitzinger).
Human sex determination for forensic purposes: comparison of different methods
(E. Ponzano et al.).
Drug abuse deaths: DNA individualisation of traces of blood from hypodermal syringes
(V. Prieto et al.).
Recovery of high
quality DNA from 500-year-old skeletal remains for forensic DNA typing
(M. Sakurada et al.).
DNA Typing from human dentine
(M. Schulz, W. Reichert, R. Mattern).
Forensic view for genetic profiles after bone marrow transplants
(L. Souto).
Monitoring patients
after bone marrow transplantation - a comparison of methods
(M. Stenersen et al.).
Short tandem repeat analysis to monitor
chimerism after bone-marrow transplantation
(D. Syndercombe Court et al.).
DNA Typing of epithelial cells
(P. Wiegand, M.
Kleiber).
Detection and quantitation of the age-dependent 4977 BP deletion of human mitochondrial DNA
(N. von Wurmb et al).
Individualization of urine samples in doping control by steroid profiling and PCR based DNA analysis
(P. Berschick, H. Geyer, W Schanzer).
Funerary recruitment in a sepulchral cave dated from the Bronze Age
(M.L. Fily et al.).
Analysis of highly degraded DNA
by solid phase cycle sequencing of HLA Class II for forensic applications (G. Holmlund et al.).
Experimental exercise on mitochondrial
DNA sequencing for forensic casework analysis
(B.M. Dupuy, E. Staalstroem, B. Olaisen).
Mitochondrial DNA in forensic casework: Sequencing
of the Cytochrome B gene for species identification
(W. Parson et al.).
Polymorphisms.
Structure and gene frequency
distribution of locus D16S543 (WG1F2) in the Japanese population
(H. Fukushima et al.).
The development of a third generation
STR mulitplex system
(S. Watson et al.).
Multiplex analysis and forensic validation of four new tetrameric STRs
(E. d'Aloya et al.).
Further exploring of new STRs of interest for forensic genetic analysis
(M.V. Lareu et al.).
Sequence structure
of the D8S320 locus: A new STR in Forensic Science
(A. Junge et al.).
DNA analyses of ABO blood group variants, A3, Aend
and Bm
(Y. Itoh, N. Iizuka, R. Kobayashi).
AHSG phenotyping in dental pulps
(A. Kido, R. Susukida, M. Oya).
A novel approach for
ABO Blood group genetic subtyping and the allele frequency distribution in a Hungarian Romany population group
(Z. Kozma et al.).
The expression of Lewis antigens and carbohydrate chains in human brain
(K. Nishi et al.).
Two genetic variants, ISEHARA-1
and 2, of a1-Antichymotrypsin
(M. Osawa et al.).
Pi subtyping with Capillary Electrophoresis
(A. Pahl, W. Blum, H.H.
Hoppe).
Evaluation and application of highly informative and sensitive HLA-DRB1 and DPB1-Inno-Lipa typing systems in forensic practice
(H. Zimdahl et al.).
MVR analysis of the HRAS1 minisatellite: A new polymorphism of medical, anthropological and forensic
interest
(A. Salas et al.).
A model system in yeast for the study of mutational mechanisms operating at human minisatellites
(H. Cederberg et al..).
Allele-specific four-state MVR-PCR analysis at D7S22
(R. Andreassen, B. Olaisen).
Allelic diversity
in the variable number of tandem repeat marker D2S44 (YNH24) shown by multi variant repeat mapping
(G. Holmlund et al.).
Recombination as a mechanism for sequence diversities in the ABO gene: Population difference in the occurrence of the recombinants and
evidence for gene conversion
(K. Suzuki et al.).
Detection of De Novo mutation in the GC system by DNA sequence analysis
(S.
Weidinger et al.).
Allele frequency distribution of D3S1358, VWA, and FGA Loci in a Southern Spain population
(M.I. Andres et al.).
Forensic validation, German population data, and automated detection of alleles of the co-amplified STR loci D3S1358,
VWA and FGA
(M. Benecke, M. Staak, C. Schmitt).
Allele frequencies of the STR locus HUMFGA in an Italian population
(L. Buscemi et al.).
Genetic studies of the nucleotide repeat CYP19
(B. Caeiro, J.R. Luis, S. Dios).
Two STRs in a population of Northern
Italy: Phenotypes and allele frequencies
(N. Cerri, F. Zorzi, F. de Ferrari).
French population data of five VNTR loci
(K. Crainic et al.).
Population genetics of 14 STRS: VWA, TH01, TPOX, CSF1PO, D5S818, D13S317, D7S820, D16S539, F13A01, FESFPS, F13B, LPL,
D3S1358 and FGA in the Pomerania-Kujawy region of Poland
(J. Czarny et al.).
Sequencing and population data of a short tandem
repeat locus in the Human Alpha Fibrinogen Gene (HUMFGA) in an Austrian population sample
(E.M. Dauber et al.).
TPOX, HUMvWA31/A,
HUMTH01, CYP19, D5S373, D8S323, D8S344, D8S345: STR database for a West African Population
(S. Dios et al.).
Allele frequencies
of four STR polymorphisms in an Italian population sample
(M. Dobosz et al.).
Allele frequencies distribution of three STRs
loci
(CD4, CSF1PO, F13B) in Tuscany (Italy)
(R. Domenici et al.).
New alleles of D12S391 STR locus in a Portuguese population
(R. Espinheira et al.).
Allele frequencies (HUMvWA, HUMTHO1 AND HUMFES/ FPS) in a population sample of South West-Germany
(R. Forster et al.).
Allele frequency distribution of 7 STR loci in the Basque Country Autochthonous population
(O. Garcia et al.).
Duplex STR analysis of D19S253 and D18S51 in a Portuguese population
(H. Geada et al.).
Sardinian population
data on STR locus HUMTHO1
(S. Gessa et al).
Austrian population data on the polymorphic STR loci DYS19 and HUMF13B
(B.
Glock et al.).
Genetic profiling of S.Miguel Island (Azores)
(L. Gusmão et al.).
Distribution of FXIIIA subtypes
in Japanese and in Chinese
(A. Kido, M. Oya). A study on five short tandem repeat systems in a Yemenian population sample
(M.
Klintschar, N. Al Hammadi).
Allele frequencies and sequence studies of a highly variable STR at the D17S976 locus (M. Klintschar et
al.).
Population genetic study for the STR loci D21S11 and HUMFIBRA analysed by using a fluorescent based coamplification and automated
detection
(Z. Kozma et al.).
Allele frequencies of D3S1358 and HUMFIBRA in a central Spanish population
(P. Martin
et al.).
Pyrenean population data on 3 tetrameric short tandem repeat loci- HUMTHO1, TPOX AND CSF1PO-derived using a STR multiplex
system
(B. Martínez-Jarreta et al.).
D3S1358 and D8S1179: Analysis and allelle frequencies in a South German Population
(E. Mornhinweg, C. Luckenbach, H. Ritter).
Allele frequencies and sequence data of the STR locus D11S554 in a Japanese population
(A. Nagai et al.).
Detection of VNTR and sequence variants of the human Dopamine D4 Receptor Gene (DRD4) in the Japanese
and Mongolian population
(M. Nakatome et al.).
Complex STRs (ACTBP2, D21S11 AND FIBRA /FGA) in two Spanish populations: New
intermediate alleles and population genetic peculiarities in ACTBP2
(C. Pestoni et al.).
HUMTHO1, HUMvWA31A, and 3'APOB VNTR-PCR
loci frequencies studied in Saharan sample population (West Sahara native population)
(M.F. Pinheiro et al.).
Annobon Island
population (Equatorial Guinea) characterised by five VNTR-PCR polymorphisms
(M.F. Pinheiro et al.).
Validation of a frequency
database for two STR loci (CD4 and D12S391)
(M.F. Pinheiro et al.).
Automated typing of 4 tetrameric STR: A North of Portugal
database
(M.L. Pontes et al.).
Population genetics of the F13A1 STR polymorphism in North Portugal and S. Tome e Principe
(C. Miranda, M.J. Prata, A. Amorim).
Typing of three STRs (HUMCD4, HUMCSF1PO, HUMTPOX),development of a multiplex PCR system for forensic
samples and parentage testing and allele frequency distribution in Tuscany region (Italy)
(U. Ricci et al.).
YNZ22 population
data in the Tuscany region (Central Italy)
(U. Ricci, C. Biondi, M.L. Giovannucci Uzielli).
STR Database from Argentina: Statistical
comparison with other population databases
(A. Sala et al.).
STR system D8S1132: Genetic data of two german population samples
(H.R. Schneider et al.).
Fluorescence based multiplex analysis of the STR polymorphism fibra, VWFA31 and D18S51 in German
caucasoid individuals
(C. Seidl et al.).
Sequence analysis and allele frequencies of STR loci D19S246 and D11S488 in German
Caucasians
(C. Seidl, S. Muller, E. Seifried).
Genetic variation at 6 STR loci in the Japanese population
(G.F. Sensabaugh
et al.).
Population and segregation data on the multiplex system (THO1, VWA, FES, F13A1) from central Portugal
(L. Souto, A. Amorim,
M.C.Vide).
Population study of the HUMvWA, HUMTHO1, HUMFES and HUMF13A1 STR polymorhisms in the South-West of Spain
(L. Souto
et al.).
An Italian collaborative study on HUMFES/FPS locus (GEFI PROJECT ANCONA 2). Allele and phenotype frequencies
(F. de Stefano,
S. Presciuttini).
Allele frequency of the HUMvWA31 locus in Italy. Report of the GEFI collaborative study "ANCONA 1"
(A. Tagliabracci,
S. Presciuttini).
Genetic analysis of the STR system of the D12S391 STR locus in the Chinese, Thai and German populations
(W. Waiyawuth et al.).
CD4, CYP19, FABP2 and LPL: Analysis, sequencing and frequency data
(R. Weispfenning, C. Luckenbach, H. Ritter).
Population data on the loci HLA-DQA1, LDLR, GYPA, HBGG, D7S8, GC and D1S80 in a Hungarian Romany population
(B. Budowle et al.).
A study of sequence polymorphism in human alpha fibrinogen gene in Pomerania-Kujawy region of Poland. Identification of a new allele
and alleles previously reported to be absent in caucasians
(M. Woźniak et al.).
Population genetic comparison of DNA
polymorphism in drug metabolizing enzyme
(M. Yamada et al.).
Polymorphism analysis of nine STR loci in Japanese using multiplex
PCR and Capillary Electrophoresis
(T. Yamamoto et al.).
Population genetic study using the AmpflSTR Blue™
kit
(R. Zehner).
Comparisons of allele frequencies in three hyperpolymorphic STRs Between Norwegian Saamis and the main population
(B.M. Dupuy, T. Gedde-Dahl, B. Olaisen).
UK caucasian databases for the short tandem repeat loci D21S11, HUMFIBRA and D8S1179
(C.
Philips, D. Syndercombe Court, N. Tamaki).
Patterns of haplotype variation at the D1S80 locus and a flanking sequence polymorphism in
African and non-African populations
(C. Albarran et al.).
Mitochondrial and Y-Chromosome Genetics.
The Y chromosome:
Forensic application and evolutionary aspects
(L. Roewer).
MVR analysis of the MSY1 minisatellite
(A. Carracedo et al.).
Allele frequencies and haplotypes of eight human Y specific STRs: A comparison between Sardinians and continental Italians
(A. Caglià et al.).
Validation studies in Y-specific STRs forensic casework evaluation
(D. Corach et al.).
Y-chromosome
STR haplotypes: construction of allelic ladders, sequencing data and population data from Galicia (NW Spain)
(C. Pestoni et al.).
Somatic instability in gastric tumors at STRs used in Forensic Genetics
(F. Silva, A. Amorim, L.Gusmão).
During a rape investigation
the suspect was found to be heteroplasmic in HUMvWA31/A
(R. Ansell, A. Kihlgren).
Why not use MVR in forensic casework? Forensic usefulness
of MVR variation at the MS32 and MS31 loci
(A. Carracedo et al.).
Two discriminatory multiplex STR systems for forensic identification:
Validation and Canadian casework experience with automated fluorscent technologies
(C.J. Fregeau, K.L. Bowen, R.M. Fourney).
Analysis
of manual and automated typing of the STR-locus SE 33
(A. Gabler, C. Luckenbach, H. Ritter).
Increasing of informativeness of the
high microvariation STR systems without sequencing
(T. Grzybowski et al.).
A novel genetic polymorphism of human Cholecystokinin
gene and relationship to alcohol dependency
(S. Harada, T. Okubo, S. Zhang).
Somatic mutation spectra of three hyperpolymorphic STRs
(P. Hoff-Olsen et al.).
A new " .3" type variant allele in the STR locus HUMTHO1. Allele 6.3 found in a Hungarian caucasian
individual
(Z. Kozma et al.).
Molecular analysis of a mutation generated at the HUMHPRTB (AGAT)n locus
(A. Vandenberghe et al.).
Screening cystic fibrosis deletion F508 in two ancient Basque populations
(L. Prieto et al.).
The
STR-marker D8S347: Allele frequency data from a Southwestern Germany population
(R. Pöltl et al.).
The STR marker FGA:
ALlele frequency data (SW-Germany), automated typing with different fluorescence markers
(R. Poltl, C. Luckenbach, H. Ritter).
Sequencing
data of the mitochondrial DNA control region from mother and child samples
(S. Rand et al.).
mtDNA mutations in SIDS victims
(T.O. Rognum et al.).
Several STR markers and their genetic instabilities in some related diseases
(M. Sasaki et al.).
Population and family studies of the sequence polymorphism at STR locus D8S639 reveals complex repeat patterns
(C. Seidl, O. Jager,
E. Seifried).
STR allele size variation due to dye labelling strategies
(L. Souto et al.).
Band shift analysis in the
typing of three base-pair repeat alleles in the short tandem repeat locus D12S391
(C.P. Phillips, D. Syndercombe Court, J. Hasskamp).
DNA-Sequencing of an allelic ladder comprising AAAG repeats and inter-gel variation of allele size
(A. Lango et al.).
Forensic
casework experience with AmpFlSTR Profiler™
(M. Richard, W. Murray, P. Newall).
Repeat structure of the Y-chromosomal
STR locus DYS385 and frequency studies in the German, Chinese, and Thai populations
(P.M. Schneider et al.).
Population genetic
study of Y-chromosome specific STR-loci in Dutch caucasians
(A.D. Kloosterman et al.).
Y-chromosomal DNA-analysis in paternity
testing: experiences and recommendations
(M. Kayser et al.).
Checking of large female lineage pedigrees for mitochondrial
D-loop mutations
(R. Szibor et al.).
mtDNA analysis of the Galician population: Correlation of historical and genetic data
(A. Salas et al.).
Mitochondrial DNA typing of the hypervariable regions I and II (HVRI and HVRII) in a Western German population
(Rhine area)
(A. Baasner, A. Junge, B. Madea).
mtDNA HVRII polymorphism in Italy
(I. Boschi et al.).
Analysis of mitochondrial
DNA: Experience with a family
(M. Crespillo et al.).
Comparative investigation of the STR polymorphism at locus D12S391
in an Austrian population sample: additional sequence data and allele distribution
(B. Glock et al.).
Y-chromosomal STR
systems: Application of a triplex-PCR in forensic stain analysis
(M. Hidding, M. Staak, C. Schmitt).
Population studies of the Y-chromosome
specific polymorphisms DYS19, DYS389 I + II and DYS390 in a Western German population (Rhine area)
(A. Junge, B. Madea).
Population
genetics of the two Y-STRs DYS19 and DYS390 in West Saxonia (Germany)
(R. Lessig, J. Edelmann).
North Italian population genetic
data for the Y STR systems DYS19, DYS390, DYS392 and their possible application to forensic routine casework
(F. Ghio, F. Betti, A.
Piccinini).
Studies on 7 autosomal and 5 Y-chromosomal STR loci in a South-West German population
(W. Reichert et al.).
Analysis of the Y-chromosome: The Y-27H39 polymorphism in a sample of Tuscany region (Central Italy)
(U. Ricci et al.).
Population genetics of the Y-chromosomal alu repeat insertion polymorphism DYS287 (YAP)
(.L. Zhang et al.).
Population
databases of DYS19 and DYS385 in 150 Norwegians
(B.M. Dupuy, A. Gjesti, B. Olaisen).
DNA Intelligence Databases, Forensic Statistics,
Quality Systems.
National casework and national DNA data base: The Royal Canadian mounted police perspective
(C.J.Fregeau et
al.).
PCR systems used by laboratories participating in the AABB/CAP parentage testing program
(C.R. Harrison et al.).
Scoring systems for DNA test results from a parentage testing proficiency program
(H.F. Polesky et al.).
The evolution and
impact of the United States advisory board (dab) forensic DNA testing standards
(L.A. Presley).
Towards the establishment of a fraternity
index in forensic identification cases
(M.I. Andres et al.).
Creation of a PCR-based polymorphisms databank of medico-legal
interest
(E. Arroyo-Pardo et al.).
Mixed stain calculator
(C.H. Brenner).
A statistical analysis by means linear model
on Italian STRs population data
(N. Cerri et al.).
Improving efficiency and reliability by means of a combined laboratory/office
management system
(L. Henke et al.).
Screening for serial rape cases among unsolved crimes in Sweden
(K. Hjelm, A. Beckman,
A. Jangblad).
The distribution of SE33 (ACTBP2) alleles in a German population sample and the dilemma of apporiate sample size
(G.
Blass).
Polymorphic ALU insertions and population genetic heterogeneity
(M. de Pancorbo M. et al.).
Index of Authors.
Bibliographic & ordering Information
Hardbound, 600 pages, publication date: AUG-1998
ISBN-13: 978-0-444-82965-8
ISBN-10: 0-444-82965-2
Imprint: EXCERPTA MEDICA
Price: Order form
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