Molecular Genetic Epidemiology A Laboratory Perspective - Day, Ian N.M.; SpringerLink (Online service) (Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2002)
1 Mapping Genes for Common Diseases: Statistical Planning, Power, Efficiency and Informatics -- 1.1 Introduction -- 1.2 Power and Sampling Considerations -- 1.3 Models of Locus Action -- 1.4 Maximum Likelihood Estimation -- 1.5 Allelic Association -- 1.6 The Malecot Model for Association -- 1.7 Candidate Genes for Allelic Association -- 1.8 Significance Levels -- 1.9 Meta-Analysis -- 1.10 Informatics -- 1.11 Summary -- References -- 2 Human DNA Sampling and Banking -- 2.1 Introduction -- 2.2 A Brief History of DNA Research -- 2.3 Goals and Needs of Human Population Genetics -- 2.4 Selection of the Source Tissue -- 2.5 A Fundamental Change in Sampling Methodology -- 2.6 DNA Isolation and Purification -- 2.7 Sample Storing -- 2.8 Sample Banking -- References -- 3 Microsatellite Genotyping -- 3.1 Introduction -- 3.2 Microsatellite Markers -- 3.3 The Genotyping Process - Experimental Considerations -- 3.4 Data Analysis -- 3.5 Data Management -- 3.6 Hardware -- 3.7 Future Developments -- 3.8 Applications -- References -- 4 Minisatellite and Microsatellite DNA Fingerprinting -- 4.1 Introduction -- 4.2 Blood Grouping -- 4.3 DNA Fingerprinting - The Discovery -- 4.4 DNA Fingerprinting - The Applications -- 4.5 An Explosion of DNA Fingerprinting Sequences -- 4.6 Shortcomings of Multilocus Probes -- 4.7 Single Locus Probes - DNA Profiling -- 4.8 Europe and the USA Disagree -- 4.9 Lessons from the Castro Case -- 4.10 Impact of PCR -- 4.11 Digital DNA Typing -- 4.12 Short Tandem Repeat Profiling -- 4.13 The UK National DNA Database -- 4.14 STR Profiling Applications -- 4.15 The Future -- References -- 5 Multiplex Polymerase Chain Reaction and Immobilized Probes: Application to Cardiovascular Disease -- 5.1 Introduction -- 5.2 Multiplex Polymerase Chain Reaction (PCR) Methodology -- 5.3 Sequence-Specific Oligonucleotide Probe (SSOP) Methodology -- 5.4 Example: Candidate Markers of CVD Risk -- 5.5 Summary -- References -- 6 The Special Case of HLA Genes: Detection and Resolution of Multiple Polymorphic Sites in a Single Gene -- 6.1 Introduction -- 6.2 The HLA System -- 6.3 Requirement for HLA Genotyping: Historical Perspectives -- 6.4 PCR-based Approaches to HLA Genotyping -- 6.5 A PCR-SSOP-Based Strategy for HLA Class II Typing Using DNA Derived from Archival Tissue Banks -- 6.6 Concluding Remarks -- References -- 7 Microplate Array Diagonal Gel Electrophoresis (MADGE) Methodologies: The First Five Years -- 7.1 Introduction -- 7.2 Microplate Array Diagonal Gel Electrophoresis (MADGE) -- 7.3 CpG-PCR -- 7.4 Temporal Thermal Ramp MADGE Electrophoresis (Melt-MADGE) -- 7.5 Software Applications (Applies to All MADGE Not Just Melt-MADGE) -- 7.6 Future Developments -- References -- 8 The Use of Sequence Analysis for Homozygote and Heterozygote Base Variation Discovery -- 8.1 Introduction -- 8.2 Sequence Analysis: a Polymorphism Discovery Method -- 8.3 Key Advancements in Sequencing Technologies: Chemistries, Hardware, and Software -- 8.4 Heterozygote and Homozygote Polymorphism Base Calling -- 8.5 Strategies for Sequencing-Based Polymorphism Detection -- 8.6 Summary and Outlook: To Sequence or Not To Sequence  - This Is Not in Question -- References.
Keywords: Cell biology; Biochemistry; Human genetics; Molecular biology; Cancer research; Cell Biology; Biochemistry, general; Human Genetics; Molecular Medicine; Cancer Research