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

th This volume comprises the Proceedings of the 15 Congress of the International Society of Forensic Haemogenetics (ISFH), held for the first time in Venezia Lido, th th Italy, on 13 -15 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. Front Matter....Pages I-XXVII Front Matter....Pages 1-1 History and Geography of Human Genes....Pages 3-12 Front Matter....Pages 13-13 DNA — A Human Rights Profile....Pages 15-22 The Association of Individual Sociodemographic Factors with Paternity Test Results....Pages 23-25 The Expert’s Evidence and the Judge’s Evaluation of all Information in Court Decisions....Pages 26-31 Ethical Considerations About Unexpected Facts Disclosed during Genetic Association Studies....Pages 32-34 Front Matter....Pages 35-35 Molecular analysis of classical red cell markers....Pages 37-44 The Molecular Genetics of HLA....Pages 45-49 A New Look at Old Friends: The Molecular Biology of the Protein Markers....Pages 50-56 The Molecular Basis of The “Red Cell” Acid Phosphatase Polymorphism....Pages 57-64 Human Red Cell Acid Phosphatase (ACP1): Genetic Typing at the DNA Level....Pages 65-67 Molecular Analysis of Esterase D Polymorphism....Pages 68-70 Front Matter....Pages 71-71 Quality Assessment as an Essential Tool for Tile Achievement of Total Quality....Pages 73-80 Quality control of paternity investigations in Scandinavia....Pages 81-83 Comparison of DNA-Profiling and Classical Blood Grouping in Criminal Cases....Pages 84-86 Fluorescent Based Typing of Two Short Tandem Repeat Loci in a Swedish Population Sample and Reproducibility of Fragment Size Estimates....Pages 87-89 Restriction Fragment Length Polymorphism: Image Analysis and Molecular Weight Calculation with a Scanner-Based Computer System....Pages 90-92 Quality Control: Interlaboratory Comparison of RFLP Results....Pages 93-95 An Optimised Chemiluminescent Detection System: Is It Compatible with Data Generated Using 32 P and a Different Ladder?....Pages 96-100 Front Matter....Pages 101-101 DNA Variation and Its Analysis by Hybridisation to Oligonucleotide Arrays....Pages 103-108 Simultaneous analysis of STR and VNTR polymorphisms....Pages 109-111 Front Matter....Pages 101-101 Streamlining VNTR Analysis. A Fast Procedure for Non Isotopic DNA Profiling....Pages 112-114 Nonradioactive Approach to Type DNA by Minisatellite Variant Repeats....Pages 115-117 Minisatellites of the Y Chromosome....Pages 118-120 Anomalous Electrophoretic Behaviour of HUMACTBP2 (SE33)....Pages 121-123 Evaluation of the Tris-Glycine/Tris-Chloride Discontinuous Buffer System for the Electrophoretic Analysis of VNTR and STR Loci....Pages 124-126 Multilocus Profiles of the Basque Country Population with Dig-Labelled Probes 33.15 and 33.6....Pages 127-129 Use of Chemiluminescent Labeled Probes for Forensic and Paternity Determinations....Pages 130-132 Three VNTR and Y-Chromosome Identification from Biological Stains....Pages 133-135 Application of the Capillary DNA Chromatography in the Paternity Testing Using APOB Amplified Alleles....Pages 136-138 Automated Laser Fluorescent Analysis of Amplified Fragment Length Polymorphisms and Short Tandem Repeats....Pages 139-141 Further Characterization of the VNTR Probe LH1 (D5S110) and Applications for DNA Typing....Pages 142-144 Method for the Evaluation of C-Bands Heteromorphism in Human Chromosomes by Image Processing (I.P.)....Pages 145-147 Polymorphism of the D1S80 Locus in Basque Country Population and Its Forensic Applications....Pages 148-150 Studies on Sex Determination with Different Y-Specific Probes After Quantifying Human Genomic DNA with the Slot Blot Hybridization Method....Pages 151-155 Typing Human DNA Using Capillary Electrophoresis: Comparison of Slab Gel and Capillary Formats....Pages 156-159 Comparison of DNA-Extraction Methods from Compact Bone Tissue....Pages 160-163 DNA-Profiling on carpeting — Methods of purification, restriction and detection....Pages 164-166 DNA Extraction for PCR: Phenol/Chloroform vs. Chelex — A Comparative Study....Pages 167-169 Simple and Rapid Typing for VNTR Polymorphisms Using High Resolution Electrophoresis of PCR Products on Rehydratable Polyacrylamide Gels....Pages 170-172 DNA Typing of Coagulation Factor XIII “a” Subunit by PCR-RFLP and SSCP....Pages 173-175 Front Matter....Pages 101-101 Two Different Mechanisms are Involved in the Polymorphism Shown by the Locus D2S44....Pages 176-178 Front Matter....Pages 179-179 Paternity Testing by Oligonucleotide DNA Fingerprinting: A Multi-Center Study Proving Reliability and Validity....Pages 181-183 Population Genetic Studies of Short Tandem Repeat Loci (STRS): Efficiency in Paternity Testing....Pages 184-186 Application of a Y-linked tetranucleotide repeat polymorphism to paternity cases....Pages 187-189 Clarification of a Paternity Case with the Mother, Two Children and the Mother of the Putative Father....Pages 190-192 Analysis of the Locus D1S80: Frequency Distribution in North-East England and Application to Paternity Testing....Pages 193-195 An Unusual Case of Failed Vasectomy Confirmed by DNA Profiling....Pages 196-198 Development and Validation of Buccal Swab Collection Method for DNA Testing for Paternity Testing....Pages 199-201 Application of Conventional and DNA Polymorphism to Paternity Cases....Pages 202-203 DNA Typing — Strategies in Paternity and Forensic Casework....Pages 204-206 Parentage Control in Cattle by Genotyping Microsatellites....Pages 207-209 Paternity Testing with DNA Systems: Application of D1S80 Phenotyping to Danish Paternity Cases Analysed with Five VNTR Single Locus Systems....Pages 210-213 PCR Polymorphisms Compared to Others Genetic Markers in the Paternity Testing....Pages 214-216 Case Report of a Disputed Paternity with No Biological Sample from the Putative Father....Pages 217-219 Paternity testing of endangered species of birds by DNA fingerprinting and random amplified polymorphic DNA fingerprinting....Pages 220-222 Characterization of Three Microsatellites and Their Application in Paternity Testing....Pages 223-225 Paternity Testing in Italy Using Minisatellite Variant Repeat (MVR)....Pages 226-228 PCR based analysis of HLA-DQα, D1S80 and Apo B loci in paternity testing....Pages 229-231 Proving Paternity Using Formalin Fixed, Paraffin Embedded Tissue Samples from a Deceased Father....Pages 232-234 Application of Single Locus Probes in Cases of Disputed Paternity — The Usefulness of the Combination of HLA and DNA....Pages 235-239 Front Matter....Pages 179-179 Expertise Report in Disputed Paternity Cases with Two or More Children....Pages 240-241 Front Matter....Pages 243-243 RFLP Typing: A New Highly Polymorphic VNTR Locus and Chemiluminescent Detection....Pages 245-252 Evaluation of Amp-FLP Markers and Summary of PCR-Based Forensic Casework....Pages 253-255 Investigations on vaginal cell/sperm mixtures from microscopical slides....Pages 256-258 Dealing with Human Remains Sampled in Disaster Areas the Case of the Israelian Embassy Explosion Ocurred in Buenos Aires....Pages 259-261 Casework Experience with Single Locus DNA Probes and Chemiluminescent Detection in Spain....Pages 262-264 DNA Analysis of Human Blood Recovered from Explosion Debris....Pages 265-267 Genetic Identification from Dental Pulp by Using DNA Amplification (PCR)....Pages 268-270 The degradation of a VNTR polymorphic site in various biological specimens when subjected to different temperature conditions....Pages 271-274 About a Case of DNA Analysis from Some Latent Blood Stains on Overalls Found in a River....Pages 275-277 Forensic DNA-typing in the Netherlands using VNTR Single Locus Probes....Pages 278-281 The Use of DNA Profiling in the Identification of Victims of an Aircrash....Pages 282-285 CODIS: A National Index of DNA Identification Records....Pages 286-288 Post-Mortem Molecular Identification. Biological Kinship Established by DNA Analysis.....Pages 289-291 Application of PCR Technique for the Characterization of Human Bones....Pages 292-294 Use of PCR for Forensic Analysis of DNA in Cigarette Ends....Pages 295-297 Quantisation of Mixed Chimerism in Blood and Bone Marrow....Pages 298-301 PCR Amplification of DNA from Old Blood Stains....Pages 302-303 Blood Group Typing and PCR-Analysis in Stored Blood Samples....Pages 304-306 Front Matter....Pages 307-307 Automated DNA Profiling Employing Multiplex Amplification of Short Tandem Repeat Loci....Pages 309-311 Front Matter....Pages 307-307 An Evaluation of Automated fluorescent PCR-Based DNA Typing....Pages 312-316 Comparison of Manual and Automated Detection for STRs Analysis....Pages 317-319 Evaluation of native and denaturing polyacrylamide gel electrophoresis for short tandem repeat analysis....Pages 320-322 Analysis of the Short Tandem Repeat Polymorphism SE33: A New High Resolution Separation of SE33 Alleles by Means of Direct Blotting Electrophoresis....Pages 323-325 Analysis of the COL2A1 Polymorphism in a Small Pan troglodytes Population, and Its Forensic Application....Pages 326-328 DNA Sex Test: A New Rapid and Quantitative Forensic Approach Using Amelogenin Gene Based Fluorescent PCR....Pages 329-332 DNA Typing on Single Hair — Recent Possibilities Based on New Extraction Method....Pages 333-335 Extraction and PCR amplification of DNA from hair shafts....Pages 336-338 Forensic application of SSCP in the analysis of HLA-DQ, which was amplified by PCR....Pages 339-342 PCR DNA Typing of Washed Stains....Pages 343-345 Genetic Studies of a STR at the vWF Locus and Its Application to Individualisation....Pages 346-348 HLA-DQα Typing by DNA Amplification of Single Human Hair....Pages 349-350 Comparison of two methods for HLA-DQA1 typing....Pages 351-353 Rapid Air Cycling of D1S80 Amplification....Pages 354-356 PCR-Based Analyses for Identity Testing....Pages 357-359 PCR Amplification of the D1S80 Locus: Analysis Using Rehydratable Horizontal Polyacrylamide Gels....Pages 360-362 Random Priming and Multiplex PCR with Three Short Tandem Repeats in Forensic Caseworks....Pages 363-365 Improved Conditions for Genotype Diagnosis of a STR of the hTPO Locus....Pages 366-368 Sex Determination in Forensic Samples by PCR: A Comparison of Two Alternative (AMGL/AMG and DYZ3/DXZ1) Markers.....Pages 369-371 PCR on Reusable Matrix-Fixed DNA....Pages 372-374 Front Matter....Pages 307-307 Effect of Degradation on PCR Based DNA Typing....Pages 375-378 Use of PCR in Forensic Casework in Southern Spain.....Pages 379-381 Advantages and Disadvantages of the Application of Nested PCR for Typing of Forensic Samples....Pages 382-386 Suitability and Efficiency of PCR Systems in Forensics....Pages 387-389 The USE of Capillary Electrophoresis in Forensic DNA Analysis....Pages 390-392 PCR inhibitor: water-soluble melanin, which inhibits DNA polymerases and DNases....Pages 393-396 Front Matter....Pages 397-397 Identification of Human Remains Using Mitochondrial DNA Sequencing: Potential Mother-Child Mutational Events....Pages 399-406 Genomic Sequencing of Alleles from Str Loci.....Pages 407-409 Evidence for a Mutation at 3’hvr COL2A1 Locus—Segregation Analysis and Sequence Data....Pages 410-411 Isolation of a (ATTTT)n Positive Locus by Cloning, PCR Cycle Sequencing and Nonradioactive Direct Blotting Electrophoresis....Pages 412-414 Molecular Analysis of a Novel HLA-DQB1 Allele and Its Gene Frequency Among Sardinians....Pages 415-417 STR-Polymorphisms in non-human Primates....Pages 418-420 PI*Mpalermo: A New Alpha-1-Antitrypsin Deficiency Allele Detected by DNA Sequence Analysis in Two Families....Pages 421-423 Molecular Basis for Polymorphism of the “a” Subunit of Coagulation Factor XIII....Pages 424-426 High Resolution Analysis by PCR on an Automated DNA Sequencer of Internal Variation at a Pseudoautosomal VNTR (DXYS17)....Pages 427-429 Digoxigenine Labeled Sequencing of the HPRT Gene....Pages 430-432 Front Matter....Pages 433-433 The Paternity Index, Population Heterogeneity, and the Product Rule....Pages 435-437 An Italian Collaborative Study on the HLA-DQA1 Locus (GEFI’s “Garda 2” Project)....Pages 438-440 Estimation of Genetic Difference between Subpopulations Using DNA Profiling Data from Crime Investigations....Pages 441-443 Semiparametric Density Estimation with Applications to DNA Profiling....Pages 444-446 Front Matter....Pages 433-433 Bioassay of kinship using VNTR alleles....Pages 447-449 Analysis by PCR/Oligonucleotide Typing of HLA Class II Alleles in a Variety of Human Populations....Pages 450-452 Evaluation of the Product Rule....Pages 453-455 Population Studies in Turkey....Pages 456-462 Allele Frecuency Distributions of Five VNTR Loci (D1S7, D7S21, D12S11, D5S43 and D2S44) in Spain....Pages 463-465 Allelic Heterogeneity of Single Locus Probes in the Populations of the Basque Country, Spain: Application in Paternity Testing....Pages 466-468 Analysis of the Short Tandem Repeat Polymorphism TC 11 (HUMTH01): Allele Frequencies and Family Studies....Pages 469-471 Distribution of HLA-DR and -DQ Alleles Revealed by Restriction Fragment Length Polymorphism Analysis in Donors from St. -Petersburg....Pages 472-474 Allele Frequencies of the vWA Str Locus in Italy....Pages 475-477 Allelic Frequency in the Population of Spain Using Three Hypervariable Loci....Pages 478-480 Polymorphism of the 3′-ApoB VNTR system in a population sample from the province of Parma....Pages 481-483 Allele Frequencies of Three STRs in an Italian Population Sample....Pages 484-486 Population Genetics of VNTR Markers (TPO and 3’APOB Loci) in the Mediterranean Area (Albania, Greece and Italy)....Pages 487-489 Distribution of HLA Class II Genes in a Caucasian Population as Determined by PCR and Reversed-Dot-Blot Typing....Pages 490-492 Study of the APO B Polymorphism in Tuscany (Italy)....Pages 493-495 The Distribution of HUMTH01 Polymorphism in Northern and Central Italy....Pages 496-498 HLA-DQA1 Polymorphism in a Portuguese Population....Pages 499-501 Suitability of the ACTBP2 (SE33) STR-Polymorphism for Legal Medicine Investigation in the Population of Catalonia (North-East Spain)....Pages 502-504 Study of Three Minisatellites (D1S80, YNZ22, 3′ApoB) Performed by P.C.R. in the Population of Catalonia (North-East Spain)....Pages 505-507 Population Genetics of Three STR Polymorphisms in a Chinese Population....Pages 508-510 Front Matter....Pages 433-433 Comparison of Different Tests for Deviation from Hardy-Weinberg Equilibrium of AMPFLP Population Data....Pages 511-514 Swiss Population Data for 3 STR-Systems (SE33, HUMTHO1, D21S11), HLA DQα and D1S80....Pages 515-517 RFLP and STR Polymorphisms in a Swiss Mountain Population....Pages 518-520 False Paternity Trios in white, black and Cape Coloured populations....Pages 521-523 APOB 3′ VNTR Polymorphism in Southern African Populations....Pages 524-526 Spanish Population Data for the Short Tandem Repeat ACTBP2 (SE33)....Pages 527-529 Study of allele frequencies distribution of the 3′-HVR marker near α -globin gene in the french population....Pages 530-532 HLA-DQA1 Subtyping by PCR Followed by a Combined SSO/RFLP Method of Detection. Distribution of Alleles and Genotypes in two Spanish Populations....Pages 533-535 A UK Caucasian Database for the TBQ7 (D10S28) Locus Derived from Blood Samples Submitted for Paternity Analysis....Pages 536-538 Four STRs in 300 Norwegians....Pages 539-541 French Population Data of 6 AMPFL’S....Pages 542-544 Gardal (D2S44 SBA) — Harmonization of Protocols and a Collaborative Database....Pages 545-546 APO B Polymorphism in the District of Bologna (Italy)....Pages 547-549 HLA.DQ-Alpha and D1S80 Data from a French Caucasian Population Random Sample Versus a Sample of Aircrash Victims....Pages 550-553 Investigation of the STR locus HUMTH01 using PCR in Caucasian samples from England and Galicia, NW Spain....Pages 554-558 The Distribution of HLA DQA1 Alleles in the Population of the North of Portugal....Pages 559-561 Study of D1S80 Locus Polymorphism in the North of Portugal....Pages 562-564 Genetic Substructure of the Italian Population at the VNTR Loci D1S80 and D17S30: The Tuscan Region....Pages 565-568 Allele Frequencies at the D2S44, D10S28 and D14S13 Loci in Four Southern African Populations....Pages 569-571 HLA DQA1 and D1S80 Polymorphisms in the Population of Andalusia (Southern Spain)....Pages 572-574 Front Matter....Pages 433-433 Studies on the HUMFABP and HUMTH01 Polymorphisms....Pages 575-577 Phenotype and Allele Frequencies of 4 VNTR-AMPFLP’s in an Austrian Population Sample....Pages 578-580 Typing for STR-loci by Electrophoresis on Rehydratable Polyacrylamide Gels: Phenotype and Allele Frequencies of SE33 and TC11 in an Austrian Population Sample....Pages 581-583 Allele Frequency Distribution in Schleswig-Holstein for the DNA Probes MS1, MS31, MS43A, G3 and YNH24....Pages 584-586 Allele Frequencies of the HUMTH01 Locus in the Italian Population....Pages 587-589 PCR Typing of the COL2A1 System: Allelic Frequencies in Two Population Samples from North and Central Italy....Pages 590-592 Deoxyribonucleic Acid (DNA) HLA - DQ α Allele Frequency Distribution in Various Sects of South Indian Population....Pages 593-595 Distribution of HLA-DQα Alleles in Deoxyribonucleic Acid (DNA) from Caucasian and Black Populations of Marion County, Indiana, USA....Pages 596-598 HLA-DQα PCR System: Frequencies of a South Bavarian Population and Family Data....Pages 599-602 Front Matter....Pages 603-603 Subtyping of coagulation factor XIIIA by Isoelectric focussing....Pages 605-607 Haptoglobin Subtypes in Tuscany (Italy)....Pages 608-610 Haptoglobin Subtypes in Several Populations of Spain....Pages 611-613 GC, TF and PI Polymorphisms in Madeira (Portugal) PI*S Allele and Paternity Testing....Pages 614-616 Further Evidence for Transformation of Genetic Markers in Recipients after BMT....Pages 617-619 Two Cases of Duplication of the 1F and 1A2 Genes in the Vitamin D-Binding Protein (GC) System....Pages 620-622 ABO Blood Grouping of Old Blood Stains by Ultra Micro Reverse Agglutination with Monoclonal Anti-A, -B Antibodies....Pages 623-625 Transferrin Subtyping in Human Organ Tissues....Pages 626-628 Serum Protein Detection in Old Dental Pulp....Pages 629-631 Genetic Diversity in Sri Lanka: Some implications in Paternity and Forensic testing....Pages 632-634 Human Inter-Alpha-Trypsin Inhibitor (ITI) Silent Allele Found in a Case of Disputed Paternity....Pages 635-637 Front Matter....Pages 603-603 Lectin- and Immuno-Histochemistry on Mucous Substances of the Taste Buds and Lingual Glands in Some Mammals....Pages 638-640 Immunization of Thalassaemic Patients Against the Ag System....Pages 641-643 PI (α-1-Antitrypsin) Subtypes in NW Portugal....Pages 644-646 Comparative Lectin and Immuno-Histochemistry on Antigen Expression in Blood Group A1 and A2 Individuals....Pages 647-649 Orosomucoid Phenotyping Using Monoclonal Antibodies....Pages 650-652 Study of Rapid Determination of ABO Blood Group in Bloodstains by the Improved Dot-ELISA with Monoclonal Antibodies....Pages 653-655 Investigations on the distribution pattern of haptoglobin subtype allele frequencies in European populations — Preliminary report —....Pages 656-658 The Distribuiton of Bf Phenotypes in Human Sera in Beijing Area and Detection of Bf Phenotypes in Bloodstains....Pages 659-661 This book presents scientific reports of the most recent advances in the forensic application of modern hemogenetics, mainly based on DNA technology. The wide variety of polymorphic DNA systems applied, such as VNTR, STR, and other PCR-based polymorphisms, have been dealt with extensively. New perspectives offered by techniques such as capillary electrophoresis, DNA sequencing and the so-called "DNA chip-technology" are also covered by contributions by the leading scientists in the field. This volume offers a large amount of useful data and methods that can be directly used by scientists working in the fields of forensic and legal medicine, forensic science, population genetics, anthropology, biostatistics, and immunohematology