Molecular Genetic Epidemiology - A Laboratory Perspective

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.- 4Minisatellite 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

From the reviews of the first edition: "This volume places emphasis on established molecular genetic methods and arranges principles and practice. Chapters have been written by developers or highly experienced end users concerned with a diverse array of biological applications. The book is intended for any researchers for whom costs and throughput in their genetics laboratory have become an issue." (BioWorld, Issue 4, 2002) "This book provides an overview of high throughput systems for molecular genetic studies of population samples. a ] The book is cleverly written by authors who are clearly leaders in their field. a ] Basics such as the collection, storage and management of DNA banks, which are extremely valuable resources in this post-genomic era, are covered well. Cutting edge technologies a ] are described in plain English and valuable advice for their implementation is provided that I have never seen brought together into a single volume before." (William G. McKay, Microbiology Today, Vol. 29, 2002) "The 8 chapters included in this volume cover practical and theoretical approaches that are essential to genetics laboratories involved in molecular genetic studies of population samples that require medium- or high-throughput applications. Those considered in the book range from statistics and bioinformatics tools, through DNA sampling and storing a ] and discovery of homozygote and heterozygote single nucleotide polymorphisms up to MADGE a ] methodologies that are less expensive than the homogenous systems and have been developed to eliminate the main disadvantages inherent in conventional electrophoresis." (Horst Malke, International Journal of Medical Microbiology, Vol.292 (1), 2002) "The book is written from a ~a laboratory perspectivea (TM) a ] . We are convinced that specific a ] chapters of the book may be of great value for a ~wet researchersa (TM), whereas others may be important for a ~dry researchersa (TM). In any case, the spectrum of this book is so