Guide to Mutation Detection is the only single source for the theory and practice of mutation analysis needed to design an experiment. User-friendly, concise, and expertly edited by recognized leaders in the field, the text provides a cutting-edge reference that is still accessible to those with no experience in mutation analysis.
The coverage is divided into two sections, with the first section reviewing such topics as:
- Key technologies
- Mutation scanning
- Cleavage
- Quality control
- High throughput approaches
- Databases
- Nomenclatures
The second section focuses on step-by-step protocols and discussion of methods, including:
- Tag-array minisequencing
- Electronic hybridization
- Pyrosequencing
- Fluorescent Single-Stranded Conformation Polymorphism (SSCP)
- Denaturing High-Performance Liquid Chromatography (DHPLC)
- Array Comparative Genomic Hybridization (ACGH)
- Microplate Array Diagonal Gel Electrophoresis (MADGE)
In Guide to Mutation Detection, the emphasis remains on practical applications. The detailed protocols derive from the well-regarded Human Genome Organization (HUGO) training course. Useful appendices contain important safety data, supplier lists, and bioinformatics resources.
Up-to-date, user friendly, and comprehensive, the Guide to Mutation Detection is an invaluable resource for those working across a wide range of genetics-related disciplines.
Contents
- Reviews
- Genotype to Phenotype
- Frequency and Nature of Mutations and the Methods to Detect Them
- A Full-Coverage, High-Resolution Human Chromosome 22 Microarray for Clinical and Research Applications
- Detection of Large Heterozygous Deletions and Duplications
- Principles of Mutation Scanning by DHPLC
- Enzymatic and Chemical Cleavage Methods
- Quality in Mutation Detection
- Comparison of Scanning Methods for BRCA1 Mutation Analysis
- MeltMADGE: Economical Very High-Throughput Mutation Scanning Using Thermal Ramp Electrophoresis in Conjunction with MADGE (Microplate Array) Gels
- High-Throughput SNP Genotyping by Minisequencing Primer Extension Using Oligonucleotide Microarrays
- Mutation Databases
- Mass Spectrometry for High-Throughput Genotyping
- Locus-Specific Mutation Databases and Nomenclature Annex
- Methods
- Extraction of Nucleic Acids
- Polymerase Chain Reaction and ARMS
- Minisequencing and Capillary Electrophoresis
- SNP Genotyping Using Tag-Array Minisequencing
- Dynamic Allele-Specific Hybridization
- Fluorescence Polarization SNP Detection
- Pyrosequencing (Pyrosequencing AB).
- Single Nucleotide Polymorphisms (SNPs) by Electronic Hybridization
- Manual SSCP and Heteroduplex Analysis Gels
- Fluorescent SSCP: Slab Gels and Capillary Electrophoresis
- Denaturing Gradient Gel Electrophoresis
- Protein Truncation Test
- DHPLC
- Temperature-Gradient Capillary Electrophoresis
- Chemical Cleavage of Mismatch and Enzyme Mismatch Cleavage
- Automated Dye Terminator Sequencing
- Mutation Detection with the Staden Package
- Gene Dosage by Semiquantitative PCR
- Gene Dosage by Multiplex Amplifiable Probe Hybridization
- Gene Dosage by Multiplex Ligatable Probe Amplification
- Array CGH
- Microplate Array Diagonal Gel Electrophoresis (MADGE)
Index
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