Since the publication of the popular first edition, the explosion of DNA sequence information, the access to bioinformatics and mutation databases coupled with the ability to readily detect and confirm mutations has cemented the role of molecular diagnostics in medicine and, in particular, mutation detection by the polymerase chain reaction (PCR). In PCR Mutation Detection Protocols, Second Edition, expert researchers bring the subject up-to-date with key protocols involving the PCR and its many various incarnations such as SSCP, CSGE, and dHPLC. The volume also addresses key areas such as Southern blotting, accurate diagnostics with high throughput, as well as microarray systems. Written in the highly successful Methods in Molecular Biology series format, chapters include brief introductions their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and notes which provide the often hard to find information that may mean the difference between the success and failure of the method. Authoritative and cutting-edge, PCR Mutation Detection Protocols, Second Edition aims to stimulate postgraduate scientists, researchers, and clinicians already engaged in the area and to provide an important first step for those new to this practice wanting to adopt the powerful and essential technique in their own laboratories.

1. Conformation Sensitive Capillary Electrophoresis (CSCE) Emma Jane Ashton 2. Conformation Sensitive Gel Electrophoresis Marian Hill 3. Denaturing HPLC (dHPLC) for Mutation Screening Mike Mitchell and Jacky Cutler 4. In situ Detection of Human Papillomavirus DNA after PCR-Amplification Gerard J. Nuovo 5. LATE-PCR and Allied Technologies: Real-Time Detection Strategies for Rapid, Reliable Diagnosis from Single Cells Kenneth E. Pierce and Lawrence J. Wangh 6. Long PCR Amplification of Human Genomic DNA Stephen Keeney 7. Human Papilloma Virus Strain Detection Utilizing Custom-Designed Oligonucleotide Microarrays Duncan Ayers, Mark Platt, Farzad Javad, and Philip J.R. Day 8. Multiplex Ligation-Dependent Probe Amplification (MLPA) for the Detection of Copy Number Variation in Genomic Sequences Petra G.C. Eijk - van Os and Jan P. Schouten 9. Screening for Genomic Rearrangements by Multiplex PCR/Liquid Chromatography (MP/LC) Houdayer Claude, Dehainault Catherine, Gauthier-Villars Marion, and Stoppa-Lyonnet Dominique 10. Mutation Surveyor: Software for DNA Sequence Analysis Jayne A.L. Minton, Sarah E. Flanagan, and Sian Ellard 11. Non-Invasive Prenatal Diagnosis (NIPD) Cathy Meaney and Gail Norbury 12. Automated DNA Sequencing Yvonne Wallis and Natalie Morrell 13. Phylogenetic Microarrays for Cultivation-Independent Identification and Metabolic Characterization of Microorganisms in Complex Samples Alexander Loy, Michael Pester, and Doris Steger 14. Prenatal Detection of Chromosome Aneuploidy by Quantitative-Fluorescence PCR Kathy Mann, Erwin Petek, and Barbara Pertl 15. Use of Robotics in High-Throughput DNA Sequencing Stephen Keeney 16. Detection of Factor V Leiden and Prothrombin c.20210G>A Allele by Roche Diagnostics LightCycler Peter C. Cooper 17. RT-PCR for the Detection of Translocations in Bone and Soft Tissue Tumors in Formalin-Fixed Paraffin-Embedded Tissues Ann Williams and D. Chas Mangham 18. Detection of Minimal Residual Disease in Leukaemia by RT-PCR Joanne Mason and Mike Griffiths 19. Mutation Detection by Southern Blotting Gillian Mellars and Keith Gomez