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Molecular Genetic Epidemiology : A Laboratory Perspective - Ian N. Day

Molecular Genetic Epidemiology

A Laboratory Perspective

By: Ian N. Day (Editor)

Paperback Published: 23rd October 2001
ISBN: 9783540413875
Number Of Pages: 214

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This volume describes higher throughput approaches in the context of a series of robust and established methodologies in molecular genetic studies of population samples. Such developments have been essential to linkage and association studies of single gene and complex traits in humans, animals and plants. These developments have also been important to the characterisation of clone banks. Chapters have been written by developers or highly experienced end-users concerned with a diverse array of biological applications. The book should appeal to any researcher for whom costs and throughput in their genetics laboratory has become an issue.

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 broad that researchers from both sides of this research area will profit from the techniques outlined in the book." (A. Ziegler and B. MA1/4ller-Myhsok, Human Genetics, Vol. 112 (1), 2003)

Mapping Genes for Common Diseases: Statistical Planning, Power, Efficiency and Informatics
Introductionp. 1
Power and Sampling Considerationsp. 2
Models of Locus Actionp. 6
Maximum Likelihood Estimationp. 7
Allelic Associationp. 12
The Malecot Model for Associationp. 14
Candidate Genes for Allelic Associationp. 17
Significance Levelsp. 17
Meta-Analysisp. 18
Informaticsp. 20
Summaryp. 24
Referencesp. 24
Human DNA Sampling and Banking
Introductionp. 27
A Brief History of DNA Researchp. 27
Goals and Needs of Human Population Geneticsp. 29
Selection of the Source Tissuep. 33
A Fundamental Change in Sampling Methodologyp. 36
DNA Isolation and Purificationp. 38
SampleStoringp. 42
SampleBankingp. 44
Referencesp. 46
Microsatellite Genotyping
Introductionp. 55
Microsatellite Markersp. 57
The Genotyping Process - Experimental Considerationsp. 60
Data Analysisp. 62
Data Managementp. 68
Hardwarep. 70
Future Developmentsp. 76
Applicationsp. 79
Referencesp. 80
Minisatellite and Microsatellite DNA Fingerprinting
Introductionp. 87
BloodGroupingp. 87
DNAFingerprinting-TheDiscoveryp. 88
DNAFingerprinting-TheApplicationsp. 90
AnExplosionof DNAFingerprintingSequencesp. 92
Shortcomingsof MultilocusProbesp. 93
SingleLocusProbes-DNAProfilingp. 94
EuropeandtheUSADisagreep. 96
LessonsfromtheCastroCasep. 96
Impactof PCRp. 98
DigitalDNATypingp. 101
ShortTandemRepeatProfilingp. 101
TheUKNationalDNADatabasep. 103
STRProfilingApplicationsp. 103
15TheFuturep. 104
Referencesp. 105
Multiplex Polymerase Chain Reaction and Immobilized Probes: Application to Cardiovascular Disease
Introductionp. 107
Multiplex Polymerase Chain Reaction (PCR) Methodologyp. 108
Sequence-Specific Oligonucleotide Probe (SSOP) Methodologyp. 116
Example: Candidate Markers of CVD Riskp. 120
Summaryp. 127
Referencesp. 127
The Special Case of HLA Genes: Detection and Resolution of Multiple Polymorphic Sites in a Single Gene
Introductionp. 131
The HLA Systemp. 132
Requirement for HLA Genotyping: Historical Perspectivesp. 134
PCR-based Approaches to HLA Genotypingp. 136
A PCR-SSOP-Based Strategy for HLA Class II Typing Using DNA Derived from Archival Tissue Banksp. 147
Concluding Remarksp. 152
Referencesp. 152
Microplate Array Diagonal Gel Electrophoresis (MADGE) Methodologies: The First Five Years
Introductionp. 157
Microplate Array Diagonal Gel Electrophoresis (MADGE)p. 161
CpG-PCRp. 163
Temporal Thermal Ramp MADGE Electrophoresis (Melt-MADGE)p. 165
Software Applications (Applies to All MADGE Not Just Melt-MADGE)p. 170
Future Developmentsp. 172
Referencesp. 179
The Use of Sequence Analysis for Homozygote and Heterozygote Base Variation Discovery
Introductionp. 183
Sequence Analysis: a Polymorphism Discovery Methodp. 183
Key Advancements in Sequencing Technologies: Chemistries, Hardware, and Softwarep. 184
Heterozygotep. 191
Strategies for Sequencing-Based Polymorphism Detectionp. 194
Summary and Outlook: To Sequence or Not To Sequence - This Is Not in Questionp. 203
Referencesp. 207
Subject Indexp. 211
Table of Contents provided by Publisher. All Rights Reserved.

ISBN: 9783540413875
ISBN-10: 3540413871
Series: Springer Lab Manuals
Audience: General
Format: Paperback
Language: English
Number Of Pages: 214
Published: 23rd October 2001
Publisher: Springer-Verlag Berlin and Heidelberg Gmbh & Co. Kg
Country of Publication: DE
Dimensions (cm): 22.71 x 16.41  x 1.04
Weight (kg): 0.35