PCR Mutation Detection Protocols

The Second Edition updates the subject with key protocols involving the PCR and its many incarnations such as SSCP, CSGE, and dHPLC. The book also addresses such areas as Southern blotting, accurate diagnostics with high throughput, and microarray systems.

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.

Fully updates the popular previous edition Offers cutting-edge techniques, such as those for microarrays, with the underlying basis of the method for successful implementation Features key tips from the expert contributors drawing upon their extensive experience Includes supplementary material: sn.pub/extras

Inhalt
Conformation Sensitive Capillary Electrophoresis (CSCE).- Conformation Sensitive Gel Electrophoresis.- Denaturing HPLC (dHPLC) for Mutation Screening.- In situ Detection of Human Papillomavirus DNA after PCR-Amplification.- LATE-PCR and Allied Technologies: Real-Time Detection Strategies for Rapid, Reliable Diagnosis from Single Cells.- Long PCR Amplification of Human Genomic DNA.- Human Papilloma Virus Strain Detection Utilizing Custom-Designed Oligonucleotide Microarrays.- Multiplex Ligation-Dependent Probe Amplification (MLPA®) for the Detection of Copy Number Variation in Genomic Sequences.- Screening for Genomic Rearrangements by Multiplex PCR/Liquid Chromatography (MP/LC).- Mutation Surveyor: Software for DNA Sequence Analysis.- Non-Invasive Prenatal Diagnosis (NIPD).- Automated DNA Sequencing.- Phylogenetic Microarrays for Cultivation-Independent Identification and Metabolic Characterization of Microorganisms in Complex Samples.- Prenatal Detection of Chromosome Aneuploidy by Quantitative-Fluorescence PCR.- Use of Robotics in High-Throughput DNA Sequencing.- Detection of Factor V Leiden and Prothrombin c.20210G>A Allele by Roche Diagnostics LightCycler®.- RT-PCR for the Detection of Translocations in Bone and Soft Tissue Tumors in Formalin-Fixed Paraffin-Embedded Tissues.- Detection of Minimal Residual Disease in Leukaemia by RT-PCR.- Mutation Detection by Southern Blotting.