This text presents scientific reports of the most recent advances in the forensic application of modern haemogenetics, 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. The volume offers useful data and methods that can be used by scientists working in the fields of forensic and legal medicine, forensic science, population genetics, anthropology, biostatistics and immunohaematology.
Opening lecture.- History and geography of human genes.- 1. Genetic typing and human rights.- DNA - A human rights profile.- The association of individual sociodemographic factors with paternity test results.- The expert's evidence and the judge's evaluation of all information in court decisions.- Ethical considerations about unexpected facts disclosed during genetic association studies.- 2. Molecular biology of classical markers.- Molecular analysis of classical red cell markers.- The molecular genetics of HLA.- A new look at old friends: the molecular biology of the protein markers.- The molecular basis of the "red cell" acid phosphatase polymorphism.- Human red cell acid phosphatase (ACP1): genetic typing at the DNA level.- Molecular analysis of esterase D polymorphism.- 3. Quality control and quality assurance.- Quality assessment as an essential tool for the achievement of total quality.- Quality control of paternity investigations in Scandinavia.- Comparison of DNA-profiling and classical blood grouping in criminal cases.- Fluorescent based typing of two short tandem repeat loci in a Swedish population sample and reproducibility of fragment size estimates.- Restriction fragment length polymorphism: image analysis and molecular weight calculation with a scanner-based computer system.- Quality control: interlaboratory comparison of RFLP results.- An optimised chemiluminescent detection system: is it compatible with data generated using 32P and a different ladder?.- 4. DNA methodology: present and future trends.- DNA variation and its analysis by hybridisation to olygonucleotide arrays.- Simultaneous analysis of STR and VNTR polymorphisms.- Streamlining VNTR analysis. A fast procedure for non isotopic DNA profiling.- Nonradioactive approach to type DNA by minisatellite variant repeats.- Minisatellites of the Y chromosome.- Anomalous electrophoretic behaviour of HUMACTBP2 (SE33).- Evaluation of the tris-glycine/tris-chloride discontinuous buffer system for the electrophoretic analysis of VNTR and STR loci.- Multilocus profiles of the Basque country population with dig-labelled probes 33. 15 and 33. 6.- Use of chemiluminescent labeled probes for forensic and paternity determinations.- Three VNTR and Y-chromosome identification from biological stains.- Application of the capillary DNA chromatography in the paternity testing using APOB amplified alleles.- Automated laser fluorescent analysis of amplified fragment length polymorphisms and short tandem repeats.- Further characterization of the VNTR probe LH1 (D5S110) and applications for DNA typing.- Method for the evaluation of C-bands heteromorphism in human chromosomes by image processing (I.P.).- Polymorphism of the D1S80 locus in Basque country population and its forensic application.- Studies on sex determination with different Y-specific probes after quantifying human genomic DNA with the slot blot hybridization method.- Typing human DNA using capillary electrophoresis: comparison of slab gel and capillary formats.- Comparison of DNA-extraction methods from compact bone tissue.- DNA-profiling on carpeting - Methods of purification, restriction and detection.- DNA-extraction for PCR: phenol-chloroform vs. chelex - A comparative study.- Simple and rapid typing for VNTR polymorphisms using high resolution electrophoresis of PCR products on rehydratable Polyacrylamide gels.- DNA typing of coagulation factor XIII "a" subunit by PCR-RFLP and SSCP.- Two different mechanisms are involved in the polymorphism shown by the locus D2S44.- 5. DNA polymorphisms in paternity testing.- Paternity testing by oligonucleotide DNA fingerprinting: a multi-centre study proving reliability and validity.- Population genetic studies of short tandem repeat loci (STRS): efficiency in paternity testing.- Application of a Y-linked tetranucleotide repeat polymorphism to paternity cases.- Clarification of a paternity case with the mother, two children and the mother of the putative father.- Analysis of the locus D1S80: frequency distribution in North-East England and application to paternity testing.- An unusual case of failed vasectomy confirmed by DNA profiling.- Development and validation of buccal swab collection methods for DNA testing for paternity testing.- Application of conventional and DNA polymorphism to paternity cases.- DNA typing - Strategies in paternity and forensic casework.- Parentage control in cattle by genotyping microsatellites.- Paternity testing with DNA systems: application of D1S80 phenotyping to Danish paternity cases analysed with five VNTR single locus systems.- PCR polymorphisms compared to other genetic markers in the paternity testing.- Case report of a disputed paternity with no biological sample from the putative father.- Paternity testing of endangered species of birds by DNA fingerprinting and random amplified polymorphic DNA fingerprinting.- Characterization of three micro satellites and their application in paternity testing.- Paternity testing in Italy using minisatellite variant repeat (MVR).- PCR-based analysis of HLA-DQ?, D1S80 and Apo B loci in paternity testing.- Proving paternity using formalin fixed, paraffin embedded tissue samples from a deceased father.- Application of single-locus probes in cases of disputed paternity. The usefulness of the combination of HLA and DNA.- Expertise report in disputed paternity cases with two or more children.- 6. DNA polymorphisms in criminal investigation.- RFLP typing: a new highly polymorphic VNTR locus and chemiluminescent detection.- Evaluation of Amp-FLP markers and summary of PCR-based forensic casework.- Investigations on vaginal cell/sperm mixtures from microscopical slides.- Dealing with human remains sampled in disaster areas. The case of the Israelian embassy explosion occurred in Buenos Aires.- Casework experience with single locus DNA probes and chemiluminescent detection in Spain.- DNA analysis of human blood recovered from explosion debris.- Genetic identification from dental pulp by using DNA amplification (PCR).- The degradation of a VNTR polymorphic site in various biological specimens when subjected to different temperature conditions.- About a case of DNA analysis from some latent blood stains on overalls found in a river.- Forensic DNA-typing in the Netherlands using VNTR single locus probes.- The use of DNA profiling in the identification of victims of an aircrash.- CODIS: a national index of DNA identification records.- Post-mortem molecular identification. Biological kinship established by DNA analysis.- Application of PCR technique for the characterization of human bones.- Use of PCR for forensic analysis of DNA in cigarette ends.- Quantisation of mixed chimerism in blood and bone marrow.- PCR amplification of DNA from old blood stains.- Blood group typing and PCR-analysis in stored blood samples.- 7. PCR methodology.- Automated DNA profiling employing multiplex amplification of short tandem repeat loci.- An evaluation of automated fluorescent PCR-based DNA typing.- Comparison of manual and automated detection for STRs analysis.- Evaluation of native and denaturing polyacrylamide gel electrophoresis for short tandem repeat analysis.- Analysis of the short tandem repeat polymorphism SE33: a new high resolution separation of SE33 alleles by means of direct blotting electrophoresis.- Analysis of the COL2A1 polymorphism in a small PAN troglodytes population, and its forensic application.- DNA sex test: a new rapid and quantitative forensic approach using amelogenin gene based fluorescent PCR.- DNA typing on single hair. Recent possibilities based on new extraction method.- Extraction and PCR amplification of DNA from hair shafts.- Forensic application of SSCP in the analysis of HLA-DQ, which was amplified by PCR.- PCR DNA typing of washed stains.- Genetic studies of a STR at the vWF locus and its application to individualization.- HLA-DQ? typing by DNA amplification of single human hair.- Comparison of two methods for HLA-DQA1 typing.- Rapid air cycling of D1S80 amplification.- PCR-based analyses for identity testing.- PCR amplification of the D1S80 locus: analysis using rehydratable horizontal Polyacrylamide gels.- Random priming and multiplex PCR with three short tandem repeats in forensic caseworks.- Improved conditions for genotype diagnosis of a STR of the hTPO locus.- Sex determination in forensic samples by PCR: a comparison of two alternative (AMGL/AMG and DYZ3/DXZ1) markers.- PCR on reusable matrix-fixed DNA.- Effect of degradation on PCR based DNA typing.- Use of PCR in forensic casework in Southern Spain.- Advantages and disadvantages of the application of nested PCR for typing of forensic samples.- Suitability and efficiency of PCR systems inforensics.- The use of capillary electrophoresis in forensic DNA analysis.- PCR inhibitor: water-soluble melanin, which inhibits DNA polymerases and DNases.- 8. DNA sequencing.- Identification of human remains using mitochondrial DNA sequencing: potential mother-child mutational events.- Genomic sequencing of alleles from STR loci.- Evidence for a mutation at 3'HVR COL2A1 locus - Segregation analysis and sequence data.- Isolation of a (ATTTT)N positive locus by cloning, PCR cycle sequencing and nonradioactive direct blotting electrophoresis.- Molecular analysis of a novel HLA-DQB1 allele and its gene frequency among Sardinians.- STR-polymorphisms in non-human primates.- PI*Mpalermo: a new alpha-1-antitrypsin deficiency allele detected by DNA sequence analysis in two families.- Molecular basis for polymorphism of the "a" subunit of coagulation factor XIII.- High resolution analysis by PCR on an automated DNA sequencer of internal variation at a pseudoautosomal VNTR (DXYS17).- Digoxigenine labeled sequencing of the HPRT gene.- 9. Population studies and biostatistics.- The paternity index, population heterogeneity, and the product rule.- An Italian collaborative study on the HLA-DQA1 locus (GEFI's "Garda 2" project).- Estimation of genetic difference between subpopulations using DNA profiling data from crime investigations.- Semiparametric density estimation with applications to DNA profiling.- Bioassay of kinship using VNTR alleles.- Analysis by PCR/oligonucleotide typing of HLA class II alleles in a variety of human populations.- Evaluation of the product rule.- Population studies in Turkey.- Allele frequency distributions of five VNTR loci (D1S7, D7S21, D12S11, D5S43 and D2S44) in Spain.- Allelic heterogeneity of single locus probes in the populations of the Basque country, Spain: application in paternity testing.- Analysis of the short tandem repeat polymorphism TC 11 (HUMTH01): allele frequency and family studies.- Distribution of HLA-DR and -DQ alleles revealed by restriction fragment length polymorphism analysis in donors from St. Petersburg.- Allele frequencies of the vWA STR locus in Italy.- Allelic frequency in the population of Spain using three hypervariable loci.- Polymorphism of the 3?-ApoB VNTR system in a population sample from the province of Parma.- Allele frequencies of three STRs in an Italian population sample.- Population genetics of VNTR markers (TPO and 3?ApoB Loci) in the Mediterranean area (Albania, Greece and Italy).- Distribution of HLA class II genes in a Caucasian population as determined by PCR and reversed-dot-blot typing.- Study of the ApoB polymorphism in Tuscany (Italy).- The distribution of HUMTH01 polymorphism in Northern and Central Italy.- HLA DQA1 polymorphism in a Portuguese population.- Suitability of the ACTBP2 (SE33) STR-polymorphism for legal medicine investigation in the population of Catalonia (North-East Spain).- Study of three minisatellites (D1S80, YNZ22, 3?ApoB) performed by PCR in the population of Catalonia (North-East Spain).- Population genetics of three STR polymorphisms in a Chinese population.- Comparison of different tests for deviation from Hardy-Weinberg equilibrium of AmpFLP population data.- Swiss population data for 3 STR-systems (SE33, HUMTH01, D21S11), HLA DQ? and D1S80.- RFLP and STR polymorphisms in a Swiss mountain population.- False paternity trios in white, black and Cape coloured population.- ApoB 3?VNTR polymorphism in Southern African populations.- Spanish population data for the short tandem repeat ACTBP2 (SE33).- Study of allele frequencies distribution of the 3?-HVR marker near ?-globin gene in the French population.- HLA-DQA1 subtyping by PCR followed by a combined SSO/RFLP method of detection. Distribution of alleles and genotypes in two Spanish populations.- A UK Caucasian database for TBQ7 (D10S28) locus derived from blood samples submitted for paternity analysis.- Four STRs in 300 Norwegians.- French population data of 6 AmpFL's.- Gardal (D2S44 SBA) - Harmonization of protocols and a collaborative database.- ApoB polymorphism in the district of Bologna (Italy).- HLA. DQ-alpha and D1S80 data from a French Caucasian population random sample versus a sample of aircrash victims.- Investigation of the STR locus HUMTH01 using PCR in Caucasian samples from England and Galicia, NW Spain.- The distribution of HLA DQA1 alleles in the population of the North of Portugal.- Study of D1S80 locus polymorphism in the North of Portugal.- Genetic substructure of the Italian population at the VNTR loci D1S80 and D17S30: the Tuscan region.- Allele frequencies at the D2S44, D10S28 and D14S13 loci in four Southern African populations.- HLA DQA1 and D1S80 polymorphisms in the population of Andalusia (Southern Spain).- Studies on the HUMFABP and HUMTH01 polymorphisms.- Phenotype and allele frequencies of 4 VNTR-AmpFLP's in an Austrian population sample.- Typing for STR-loci by electrophoresis on rehydratable Polyacrylamide gels: phenotype and allele frequencies of SE33 and TC11 in an Austrian population sample.- Allele frequency distribution in Schleswig-Holstein for the DNA probes MS1, MS31, MS43A, G3 and YNH24.- Allele frequencies of the HUMTH01 locus in the Italian population.- PCR typing of the COL2AI system: allelic frequencies in two population samples from North and Central Italy.- Deoxyribonucleic acid (DNA) HLA-DQ? frequency distribution in various sects of South Indian population.- Distribution of HLA-DQ? alleles in deoxyribonucleic acid (DNA) from Caucasian and Black populations of Marion County, Indiana, USA.- HLA-DQ?A PCR system: frequencies of a South Bavarian population and family data.- 10. Conventional genetic markers.- Subtyping of coagulation factor XIIIA by isoelectric focusing.- Haptoglobin subtypes in Tuscany (Italy).- Haptoglobin subtypes in several populations of Spain.- Gc, Tf and PI polymorphisms in Madeira (Portugal) - PI*S allele and paternity testing.- Further evidence for transformation of genetic markers in recipients after BMT.- Two cases of duplication of the 1F and 1A2 genes in the vitamin D-binding protein (GC) system.- ABO blood grouping of old blood stains by ultra micro reverse agglutination with monoclonal anti-A,-B antibodies.- Transferrin subtyping in human organ tissues.- Serum protein detection in old dental pulp.- Genetic diversity in Sri Lanka: some implications in paternity and forensic testing.- Human inter-alpha-trypsin inhibitor (ITI) silent allele found in a case of disputed paternity.- Lectin- and immuno-histochemistry on mucous substances of the taste buds and lingual glands in some mammals.- Immunization of thalassaemic patients against the AG system.- PI (alpha-1-antitrypsin) subtypes in NW Portugal.- Comparative lectin and immuno-histochemistry on antigen expression in blood group A1 and A2 individuals.- Orosomucoid phenotyping using monoclonal antibodies.- Study of rapid determination of ABO blood group in bloodstains by the improved Dot-ELISA with monoclonal antibodies.- Investigations on the distribution pattern of haptoglobin subtype allele frequencies in European populations - Preliminary report.- The distribution of Bf phenotypes in human sera in Beijing area and detection of Bf phenotypes in bloodstains.
Series: Advances in Forensic Haemogenetics
Number Of Pages: 661
Publisher: Springer-Verlag Berlin and Heidelberg Gmbh & Co. Kg
Country of Publication: DE
Dimensions (cm): 23.39 x 15.6
Weight (kg): 0.95