16th Congress of the International Society for Forensic Haemogenetics (Internationale Gesellschaft Für Forensische Hämogenetik E.V.), Santiago de Comp

ISBN-13: 9783540604921 / Angielski / Miękka / 1996 / 704 str.

International Society for Forensic Haemogenetics;Carracedo; B. Brinkmann

Opis

The 6th volume of "Advances in Forensic Haemogenetics" comprises the scientific contributions to the 16th Congress of the International Society for Forensic Haemogenetics ISFH held on Sept., 12-16, 1995 at Santiago de Compostela, Spain. The numerous papers mainly deal with the applicability of DNA technology to forensic questions. The invited speakers approached important topics such as variation of mitochondrial DNA in ancient and modern humans, the "STR approach" to solve forensic questions, the statistical analysis of STR data, automation of DNA analysis, long PCR and its applications, national DNA databases and ethical and legal aspects of DNA analysis. It has become obvious that PCR based polymorphic systems clearly dominate the scene of forensic DNA analysis worldwide. It will however be necessary to make efforts to standardize the still increasing number of systems with regard to nomenclature to achieve a universal comparability of results. Legal systems differ from country to country which has to be taken into account when reporting DNA results. There is still controversy about the way DNA results are to be presented in court-rooms. We should make efforts to assess the value of DNA evidence by a common scientifc statistical approach that is comprehensive enough to treat all possible hypotheses such as involved relatives, different ethnics and/or the not so rare situations with mixed stains.

Spis treści

1 Mitochondrial DNA.- Mitochondrial DNA Variation in Ancient and Modern Humans.- A Two Stage Strategy for the Automated Analysis of Mitochondrial DNA.- Mixing and Thermic Treatment of Mitochondrial PCR Fragments Reveal Sequence Differences by Heteroduplex Formation — A Rapid Method for Forensic Identity Testing.- Genetic Analysis of Single Hair Shafts by Automated Sequence Analysis of the Mitochondrial D-Loop Region.- Mitochondrial HVR1 Polymorphism in Italy.- mtDNA Sequences in Norwegian Saami and Main Populations.- Mitochondrial DNA Quantification in Animal Blood and Hair by Slot Blotting.- Detection of Sequence Variants in Hypervariable Segments of Mitochondrial DNA in the Asian Population.- Routine Mitochondrial DNA Identification.- Automated Fluorescent Sequencing of Mitochondrial DNA for Italian Population Frequency Data.- 2 DNA Sequencing Data.- The STR Approach.- Analysis of Sequence Variations in the Alleles From Three STR Loci.- AMPFLP Typing for the HUMCD4 STR Polymorphism in an Austrian Caucasoid Population Sample: Sequence Data and Allele Distribution.- Typing of the HUMVWA Microsatellite Polymorphism: Allele Frequencies and Sequencing Data.- Sequencing and Size Determination of the D1S80 Interallele.- Analysis of the Short Tandem Repeat Polymorphism D18S51: Allele Frequencies and Sequence Studies.- Investigation of the STR HUMLIPOL in Austrian Caucasoid Individuals: Sequence Data and Allele Frequencies.- D12S391: A Highly Useful STR for Forensic Purposes.- DNA Sequence Analysis of PCR Products of MCT118 Locus in Japanese DNA Samples.- 3 Statistics.- Statistical Analysis of STR Data.- The Use of Likelihood Ratios in Reporting Difficult Forensic Cases.- Identification of Biological Stains: Probability of Identity or of Kinship.- Decision-Making in Paternity Diagnostics Using SLPs.- Hardy-Weinberg Equilibrium in RFLP Databases.- Sedna: A Computer Program for Semiparametric Estimation of Densities and Match Probabilities in DNA Forensic Identification and Paternity Cases.- DNA PCR Polymorphisms in Paternity Test Protocols: A Biostatistical Approach.- 4 DNA Polymorphisms.- Methods for Typing the STR Triplex CSF1PO, TPOX, and HUMTH01 That Enable Compatibility Among DNA Typing Laboratories.- Selection of STR Loci for Forensic Identification Systems.- PCR Typing of Alu Elements: Molecular Genetics and Forensic Application.- An Investigation of Variation in the Sizing of Short Tandem Repeat Loci.- Male Identification Using Y Chromosomal STR Polymophisms.- Corresponding Repeats in STRs and Internal Standard in Fragment Analysis.- Construction and Calibration of Allelic Ladders for the PCR-Based Systems D8S320 and AR.- Establishment of a Highly Discriminating Pentaplex PCR System for Detection of PCR Fragments in Silver-Stained Polyacrylamide Gels.- Multiplex Amplifications and Automated Fluorescent Typing of Short Tandem Repeat (STR) Loci: The French Experience.- A Tetraplex PCR System for the Analysis of Paternity Cases.- Development and Applications of High Throughput Multiplex STR Systems.- Properties of an STR Muliplex Marker System Suitable for Paternity and Forensic Determinations.- Analysis of D1S80 VNTR Allele Polymorphisms and Association with a Nearby Flanking Sequence Polymorphism in Two Spanish Populations.- Somatic Instability in Cancer at Seven Tetrameric STR Loci Used in Forensic Genetics.- Null Alleles Detection in Loci D1S7, D7S21, and D12S11 by PCR.- Mutation Rate Variation in the Hypervariable VNTR g3 (D7S22) is Associated with a Flanking DNA Sequence Polymorphism near the Repeat Array.- The Approach of Using Random Priming for Small Forensic DNA Samples.- Use of PCR Triplex System for DNA Typing of Forensic Samples.- Evaluation of New STR Loci for Forensic DNA Typing.- Automated Profiling of Multiplexed DNA Markers: An Italian Database of Four Co-Amplified STR Loci.- Microbial DNA Challenge Studies of PCR-Based Systems Used in Forensic Genetics.- Some Critical Comments and Experimental Calculations Used as Validation Standards in the Implementation of RFLP Analysis.- Analysis of Somatic Mutations at Short Tandem Repeat Loci in Colorectal Carcinomas.- Simple and Rapid Duplex PCR for Forensic and Paternity Testing.- Genetic Studies of a STR at the UGB Locus.- Tumor Inocculation between Two Unrelated Human Individuals: STR Analysis of Paraffin-Embedded Tissue Section.- Molecular Phenotyping of Two Trinucleotide Repeats (XT00444 and D5S373): Experimental Conditions.- Development and Optimisation of a Highly Discriminating Multiplex PCR System Suitable for Forensic Identification.- Manual DNA Typing via the Short Tandem Repeats (STRs): KW 426, TH and hTPO.- A Multiplex Amplification Approach for Simultaneous Typing of Five Loci in DNA of Ancient Basque Populations.- Triplex PCR of Three STR Loci with Nonoverlapping Allele Sizes.- Visualization of Epigenetic Toxicological DNA Changes.- The 3 Hypervariable VNTR Locus APO B: Three Different Analysing Methods Revealing Different Alleles and Large Family Studies.- Automated Fluorescent PCR Based Analysis of the STR Polymorphism at Locus D8S639 and at the CYP19 Gene.- Mutations of D2S44 and D4S139 Alleles and Presence of Two-Fragment Alleles for D4S139.- Nonautomatic Multiplex Analysis and Detection of Six STR-Loci: HPRT, FABP2, CD4, F13A1, CYP19 and LPL.- DNA Analysis of Polymorphism in Drug or Xenobiotic Metabolism.- Forensic Efficiency and German Population Data for the Tetrameric STR Polymophism DHFRP2 (HUMFOLP23).- 5 Forensic Applications.- Criminal Intelligence Databases and Interpretation of STRs.- Identification Through Genetic Typing of the Victims of the Sect of the Solar Temple (Cheiry/Salvan, Switzerland).- Design of Novel Oligonucleotide Probes for Sex Determination and Its Forensic Application.- Casework Experiences with a Multiplex STR System.- Multiplexed DNA Markers from Cigarette Butts in Forensic Casework.- DNA Polymorphisms in Dental Pulp: Effect of Environmental Factors.- Identification of Human Remains Using DNA Amplification (PCR).- The So-Called Alcohol-Blood Sample Identity Expertise.- Application of the STR Androgen Receptor (HUMARA) Polymorphism to Paternity Cases.- Multiplex Genetic Typing of CSF1PO, TPOX, and HUMTH01 in Forensic Samples.- A Five Minute Procedure for Extraction of Genomic DNA from Whole Blood, Semen and Forensic Stains for PCR.- False Results in the HLA-DQ? Typing: Two Cases Reported.- Forensic Use of PCR DNA Analysis in Hairs, Envelopes, and Cigarette Ends.- PCR-DNA Typing from Beard Samples.- PCR-Based Analyses of Epidermal Cells Found on Adhesive Tape.- Determination of Sex in Dental Pulp Using PCR.- Use of PCR in Forensic Casework in the Area of Berlin-Brandenburg: Allele Frequency Distribution of Six Microsatellites.- The Never Ending Story: A New Tsarevitch?.- Influence of Mediaeval Clothes Colour Pigments on DNA Extraction and Amplification.- Forensic Investigations After Sexual Abuse of Several Infants: A Criminal Case Report.- Sex Determination on Ancient Bones.- Identification of the Skeletal Remains of Two 12-Year Old Bodies by Nuclear DNA Polymorphisms Analysis.- Identification of Vestiges from Diverse Biological Sources Using Duplex Amplification of Short Tandem Repeat Loci.- A Rare Paternity Case with PP 99.99% and Exclusion at Three Loci.- Three Intriguing Identification Cases.- Forensic DNA Typing in the Spanish Police Using VNTR Single Locus Probes.- PCR Typing of DNA Extracted from Epidermal Particles Won by Scratching.- PCR Genotyping in Dental Pulp from Old Human Skeletal Remains and Fire Victims.- ABO Genotyping of the Suspects Using Their Sperm DNA.- Forensic Identification Using DNA Recovered from Saliva on Human Skin.- Analysis of STR Loci in Old Blood Stains Using Automated and Manual Genotyping Systems.- Microsatellite DNA Polymorphism Analysis in a Case of Illegal Cattle Purchase.- Disaster Victim Identification by Using the DNA Technology on Dental Pulp: Preliminary Results.- Combined STR VNTR and MVR Typing and mtDNA Sequencing Led to the Identification of Human Remains Emergent from the AMIA Explosion in Buenos Aires.- 6 Methodology.- Rapid Sex Typing by Fluorescent Based PCR of the X-Y Homologous Amelogenin Gene and Analysis by CGE.- Heteroduplex Analysis Is a Rapid Method for Detection of Suballeles Caused by Mixed Length and Sequence Variability in STR Systems.- Use of CDP-STAR in a Fast and Highly Sensitive Chemiluminescent Detection Procedure of VNTR Loci with Neutral or Charged Membranes.- Evaluation of Primer Extension Preamplification (PEP) in Forensic Studies.- Sequential Multiplex Amplification (SMA) in Cases with Minimal Amounts of DNA.- Detection of Single Base Changes in PCR Amplified DNA Using Double and Single Strand Conformational Polymophisms (SSCP and DSCP).- Evaluation of Hybridisation Equipment for Use with Nonisotopically Labelled Probes.- CDP-StarTH as a Chemiluminescent Substrate for Use with Alcaline Phosphatase Labelled Probes.- Simple and Rapid Typing of STRs on an Automated DNA Sequencer.- A Modification to the “Chelex” DNA Extraction Method for Casework Samples.- Application of HLA-DR Typing by PCR-SSP to Forensic Samples.- The MVR-PCR Approach for the Typing of the MS32 Locus: Usefulness and Technical Problems.- of Two New Electrophoresis Gel Systems for Screening and High Resolution Identification of STRs Under Native Conditions.- Oligo-AP Probes and Chemiluminescence: Sensitivity for Stains Analysis.- Automation of In Situ DNA Sample Preparation for PCR Using the FTATM DNA Collection System, Oral Swabs, and the Rosys Laboratory Workstation.- STR Typing without DNA Extraction Using an Infrared-Based Nonradioactive Automated DNA Sequencer.- Evaluation of Hereditary Distance by Restriction Landmark Genomic Scanning (RLGS).- 7 Conventional Markers.- The PI System: Genetic Variation, Forensic Application and Clinical Aspects.- A Parentage Testing Study Revealing a Possible Deletion at the PLG Locus.- Detection of the ABO, GC, ACP, and HLA-DQA1 Polymorphisms at the DNA Level Using PCR and SSCP.- Novel Polymorphisms in the Coding Sequence of the Coagulation Factor XIII A-Subunit and Their Halotype Diversity.- Nucleotide Changes in Various Variants of the Coagulation Factor XIII A-Subunit.- ABO Genotyping with PCR.- Indication for a Silent Allele of Properdin Factor B Polymorphism (BF*Q0) in a Paternity Case.- Preliminary Studies on the Population Substructure for C1R Protein in Chinese Populations.- A Study of Polymorphism of Antithrombin III at the Level of Both Protein and DNA in a Chinese Population.- Genetic Polymorphisms of Alpha-1-Antitrypsin and Group-Specfic Component in Spanish Gypsy Population.- Studies on Blood Genetic Markers in Some Mongoloid Populations of Eastern Siberia.- PI Subtyping in Dental Pulps.- GC Subtyping in Serum and Semen after Neuraminidase Treatment.- Simultaneous Focusing of PGM1 and ACP Phenotypes Using Miniaturized Gels and Three Electrode Technique.- Platelet and Granulozyte Alloantigen Typing Using Sequence-Specific Primer (SSP) PCR Amplification.- Plasma Protein Markers in S. Tomé e Principe.- Detection of a Silent GC Allele in a Danish Mother and Child.- ABH-Related Antigens Participate in the Spermatogenesis of Cats and Rats.- Species Identification by Analysis of the Genes for ABO Blood Group.- 8 Population Genetics.- Statistical Issues in DNA Profiling.- Population Genetics of D1S80, HUMVWA31 A, and HUMF13A1 from Portugal and Goa (India).- Genetic Substructure at the STR Loci HUMTH01 and HUMVWA in Han Populations, China.- Collaborative Study on the Polymorphism of the D1S80 Locus in the Italian Population.- DNA Fingerprinting in Balearic Populations.- HLA-DQA1 and D1S80 in the Population of Valencia (Spain).- Gene Frequencies of Human Populations along Pyrenean Chain.- Multiplex PCR and Automated Flourescence Detection of Four Tetrameric STRs in an West-Austrian Population.- Population and Formal Genetics of the STRs TPO, TH01 and VWFA31/A in North Portugal.- Population Genetics of Three STRs: TH01, CSF1PO, and TPOX in Southern Spain.- Frequency Multivariate Analysis of LDLR, GYPA, HBGG, D7S8, and GC in 12 Different Populations.- Worldwide Distribution of D1S80 Polymorphism: Comparison of Genetic Distances and Cluster Analysis.- Allele Frequency Distributions of 3 STR-Loci in a Population Sample from Northern Germany.- Allele Frequency Distribution of Three STRs Loci: HUMARA, HUMPLA2, and VS17T in the Spanish Population.- Determination of the Allele and Genotype Frequencies of Loci HLA-DQA1, LDLR, GYPA, HBGG, D7S8, and GC in Bogota (Colombia).- Allele Distribution of the Amplitype PM Coamplification System in a Population of Northern Italy.- Characterization of YNZ22 Locus for Forensic Purposes, Allele and Genotype Frequencies in a Northern Italian Population.- D1S80 Population Data in the North East of Spain.- Population Study for the HLA-DQA1, LDLR, GYPA, HBGG, D7S8, and GC Loci in North East of Spain.- Allele Frequencies of Four STRs (HUMTH01, HUMVWFA31, HUMF13A01, HUMFESFPS) in the North East of Spain.- German Data on the Loci of Low-Density Lipoprotein Receptor, Glycophorin A, Hemoglobin ?, D7S8, Group-Specific Component and HLA-DQ?.- Allele Frequencies of VWA, FESFPS, FXIIIA1, and D21S11 in an Italian Population Sample.- STR Analysis: HUMTHOl and HUMFESFPS for Forensic Application.- Profiling the North East Italian Population by Four Highly Polymorphic DNA Probes.- Allele Frequencies of HLA-DQ, LDLR, GYPA, HBGG, D7S8, and GC in the Resident and Autochthonous Populations of the Basque Country.- Study of HUMACTBP2 STR Polymorphism, Performed by PCR and Automated Laser Flourescence (ALF) Sequencer in a Population Sample of Catalonia.- Aymara and Quechua Amerindian Populations Characterized by HUMTH01 and HUMVWA STR Polymorphisms.- Suitability of the HUMTH01, HUMCD4, and HUMVWA STR Polymorphisms for Legal Medicine Investigations in the Population of Catalonia (North East Spain).- Population and Formal Genetics of the STR System MBP-Locus B in North Portugal.- Allele Frequency Distributions of Five Loci (LDLR, GYPA, HBGG, D7S8 and GC) in a Japanese Population.- Frequency Data on the Loci LDLR, GYPA, HBGG, D7S8, and GC in a Population Resident in Madrid (Spain).- German Data on the PCR-Based Loci HUMVWA 31, HUMTH01, HUMES/FPS, HUMF 13B, and D1S80.- D1S80 Alleles in Wielkopolska Population (Poland).- A Study on the Short Tandem Repeat System ACTBP2 (SE33) in an Austrian Population Sample Using Nondenaturing Electrophoresis and a Sequenced Allelic Ladder.- HLADQA1 Allele Frequencies in the World Using a Biplot to Visualize Alleles and Populations Simultaneously.- Efficiency of 6 STR Systems, HLADQ? and the Polymarker Systems (PM) in Paternity Testing.- Swiss Population Data for the STR Systems HUMVWA, HUMF13A1, and HUMFES.- Studies on the HUMTH01 and HUMVWA Polymorphisms in a South West German Population.- Spanish Population Data on Seven Loci (D1S80, D17S5, HUMTH01, HUMVWA, ACTBP2, D21S11, and DQA1): Equilibrium and Independence.- Two Highly Polymorphic VNTR Loci D5S110 (LH1) and D4S139 (PH30): Analysis, Formal and Population Genetic Data.- Allele Frequency Distribution of Five VNTR Loci and Paternity Testing in the North East of Spain.- Spanish Population Data on 13 PCR-Based Systems.- Allele Frequencies of D1S80, LDLR, GYPA, D7S8, GC, HBGG, and SE 33 in Polish Population Sample.- Haplotype Frequencies of Two STRs of the Chromosome 8q (D8S344 and D8S323).- Japanese Population Data on Six STR Loci.- Forensic Application of STR Polymorphic Markers.- Population Studies of Two AMPFLPS and Two STRs Systems in a North Polish Population.- Allele Frequency Distribution of 15 PCR-Based DNA Polymorphisms in the Population of Galicia (NW Spain).- The Allelic Distribution of Five STRs Systems in a North Italian Population.- Population Study of Three STR Loci in the North of Portugal.- Population Genetics of the STRs TPO, TH01, and VWFA31/A in S. Tomé e Príncipe.- Automated Analyisis of Five STR Loci: Allele Frequencies and Family Studies in the German Population.- Southern Spain Population Frequencies of the Loci LDLR, GYPA, HBGG, D7S8, and Gc:A Comparison between Andalusian and Canary Islands Frequencies.- Allele Frequency Distribution of D2S44, D12S11, D7S21, D7S22, and D5S43 Loci in Southern Spain.- HLA-DQA1 Polymorphism in Two Portuguese Population Samples from Lisbon and the South of Portugal.- D1S80 Locus Polymorphism in a Population Sample from Lisbon.- AMPFLP Typing of the D21S11 Microsatellite Polymorphism: Allele Frequencies and Sequencing Data in the Austrian Population.- Typing for the HUMFES/FPS Short Tandem Repeat Polymorphism in an Austrian Caucasoid Population Sample.- Analysis of the SR Polymorphism VWA and FES: Allele Frequency and Family Studies in an Italian Population Sample.- Analysis of the Short Tandem Repeat Polymorphism D2S11 in German Caucasians.- Population Data of the VNTR Loci D10S28,D4S139, D16S309, and D5S110 in German Caucasians.- A Population Study of 5 PCR Genetic Markers: LDLR, GYPA, HBGG, D7S8, and GC in Italy.- Allele Frequencies of the HUMFES/FPS System in Northern and Central Italy.- The Y-Linked Locus Y27H39 (DYS 19), Frequency Distribution in South Bavarian and Application to Paternity Testing.- Studies on the HUMACTBP2 (SE33).- Hungarian Population Data for 11 PCR-Based Polymorphisms.- Allele Frequency Distribution of the STR System ACBP2 (SE33) in a Population of Portugal (Central Area).- Allele Frequencies in Four STRs for a Population of Portugal (Central Area).- DNA Profiling: A Genetic Study of Two VNTR Loci in the East Midlands.- Comparison of Turkish Subpopulations Using Two STRs.- The Genetic Structure of Four Argentine Ethnic Groups Reflected by the Analyses of Ten STRs.- D1S80 AMP-FLP Attributes in Two Different Ethnic Groups of Argentine Populations.- 9 Standardization, Ethics.- Ethical and Legal Aspects.- The Development of Quality Assurance Measures in Forensic DNA Typing.- The American Association of Blood Banks Inspection and Accreditation Program for Parentage Testing Laboratories.- Parentage Testing Survey Program of the College of American Pathologists: Red Cell Antigens, Serum Proteins an Red Cell Enzymes Testing Results.- The Parentage Testing Proficiency Survey Program of the College of American Pathologists.- A Review of the 1991–1994 Paternity Testing Workshop of the English-Speaking Working Group.- DNA Legislation in the Netherlands.- Science and Conscience: Regulation or Guidelines for Forensic Haemogenetics?.- HUMTHO1 Allele Frequencies in Italy — Report of the GEFI Collaborative Study.- A Review of the Collaborative Exercises of the Spanish and Portuguese ISFH Working Group.- Comparability of RFLP Results between Laboratories: AABB/CAP Survey Data.- Proficiency Testing in Forensic DNA Analysis.

Blurb

This book provides an overview of up-to-date research in forensic genetics in general, and in particular on the application of DNA technology in forensic casework. A wide variety of DNA polymorphisms, especially STRs, other PCR based polymorphisms, and mt-DNA are studied extensively and new technologies and methodologies such as capillary electrophoresis, long PCR or MVR approach are discussed. Population data, sequencing data, and forensic applications of DNA polymorphisms together with statistical standardization and ethical problems are also covered with contributions by the leading scientists in the field.