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

Molecular Genetic Epidemiology : A Laboratory Perspective

Principles and Practice

By: Ian N. Day (Editor)

Hardcover

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This book constitutes the refereed proceedings of the 4th European Conference on Research and Advanced Technology for Digital Libraries, ECDL 2000, held in Lisbon, Portugal in September 2000. The 25 revised full papers and 43 revised short papers presented together with four invited papers were carefully reviewed and selected from numerous submissions. The book offers topical sections on optical recognition, information retrieval, metadata, frameworks, multimedia, user aspects, Internet cataloguing, technical collections, and cases.

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: 9783540413882
ISBN-10: 354041388X
Series: Principles and Practice
Audience: Professional
Format: Hardcover
Language: English
Number Of Pages: 214
Publisher: Springer-Verlag Berlin and Heidelberg Gmbh & Co. Kg
Country of Publication: DE
Dimensions (cm): 23.5 x 15.88  x 1.27
Weight (kg): 0.45