PCR Mutation Detection Protocols 1st Edition by Andrea M Guilliatt, Bimal DM Theophilus, Ralph Rapley ISBN 0896036170 9780896036178

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ISBN 10: 0896036170 
ISBN 13: 9780896036178
Author: Andrea M Guilliatt, Bimal DM Theophilus, Ralph Rapley 

The first edition of PCR Mutation Detection Protocols serves as a comprehensive guide for scientists and clinicians seeking reliable and efficient methods to detect mutations using the polymerase chain reaction (PCR). This volume focuses on detailed, step-by-step protocols designed to identify genetic variations ranging from single nucleotide polymorphisms (SNPs) to larger insertions and deletions.

Written by experts Andrea M. Guilliatt, Bimal D.M. Theophilus, and Ralph Rapley, the book addresses the practical challenges of mutation detection and presents optimized techniques that combine sensitivity with specificity. It bridges foundational knowledge in PCR technology with cutting-edge mutation screening methods applied in research, diagnostics, and genetic epidemiology.

Readers will find valuable protocols covering sample preparation, primer design, various PCR-based mutation detection strategies—including allele-specific PCR, PCR-RFLP, SSCP, and more—and post-PCR analyses such as gel electrophoresis and sequencing. The book also offers troubleshooting advice and insights into emerging technologies that enhance mutation detection.

This volume is ideal for molecular biologists, geneticists, clinical diagnosticians, and anyone involved in genetic mutation analysis, providing both foundational theory and practical tools to improve accuracy and reliability in mutation detection workflows.

PCR Mutation Detection Protocols 1st Table of contents:

1. Introduction to Mutation Detection
    - Overview of PCR and Mutation Analysis
    - Types of Mutations Detected by PCR

2. Sample Preparation and DNA Extraction
    - Collection of Biological Samples
    - DNA Isolation Techniques
    - Quality and Quantity Assessment

3. PCR Primer Design and Optimization
    - Principles of Primer Design
    - Avoiding Non-Specific Amplification
    - PCR Reaction Setup and Cycling Parameters

4. Techniques for Mutation Detection
    - Allele-Specific PCR
    - PCR-Restriction Fragment Length Polymorphism (PCR-RFLP)
    - Single-Strand Conformation Polymorphism (SSCP)
    - Heteroduplex Analysis
    - Denaturing Gradient Gel Electrophoresis (DGGE)
    - Amplification Refractory Mutation System (ARMS)
    - High-Resolution Melting (HRM) Analysis

5. Post-PCR Analysis
    - Gel Electrophoresis and Visualization
    - DNA Sequencing for Mutation Confirmation
    - Use of Probes and Hybridization Methods

6. Applications in Research and Diagnostics
    - Mutation Screening in Genetic Diseases
    - Cancer Mutation Analysis
    - Pharmacogenetics

7. Troubleshooting PCR Mutation Detection
    - Common Problems and Solutions
    - Tips for Enhancing Sensitivity and Specificity

8. Future Directions in PCR-Based Mutation Detection
    - Emerging Technologies
    - Integration with Next-Generation Sequencing

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