Genomics book from C.H.I.P.S.

Guide to Mutation Detection
Edited by Graham R. Taylor
Ian N. M. Day

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.


  1. Reviews
    1. Genotype to Phenotype
    2. Frequency and Nature of Mutations and the Methods to Detect Them
    3. A Full-Coverage, High-Resolution Human Chromosome 22 Microarray for Clinical and Research Applications
    4. Detection of Large Heterozygous Deletions and Duplications
    5. Principles of Mutation Scanning by DHPLC
    6. Enzymatic and Chemical Cleavage Methods
    7. Quality in Mutation Detection
    8. Comparison of Scanning Methods for BRCA1 Mutation Analysis
    9. MeltMADGE: Economical Very High-Throughput Mutation Scanning Using Thermal Ramp Electrophoresis in Conjunction with MADGE (Microplate Array) Gels
    10. High-Throughput SNP Genotyping by Minisequencing Primer Extension Using Oligonucleotide Microarrays
    11. Mutation Databases
    12. Mass Spectrometry for High-Throughput Genotyping
    13. Locus-Specific Mutation Databases and Nomenclature Annex

  2. Methods
    1. Extraction of Nucleic Acids
    2. Polymerase Chain Reaction and ARMS
    3. Minisequencing and Capillary Electrophoresis
    4. SNP Genotyping Using Tag-Array Minisequencing
    5. Dynamic Allele-Specific Hybridization
    6. Fluorescence Polarization SNP Detection
    7. Pyrosequencing (Pyrosequencing AB).
    8. Single Nucleotide Polymorphisms (SNPs) by Electronic Hybridization
    9. Manual SSCP and Heteroduplex Analysis Gels
    10. Fluorescent SSCP: Slab Gels and Capillary Electrophoresis
    11. Denaturing Gradient Gel Electrophoresis
    12. Protein Truncation Test
    13. DHPLC
    14. Temperature-Gradient Capillary Electrophoresis
    15. Chemical Cleavage of Mismatch and Enzyme Mismatch Cleavage
    16. Automated Dye Terminator Sequencing
    17. Mutation Detection with the Staden Package
    18. Gene Dosage by Semiquantitative PCR
    19. Gene Dosage by Multiplex Amplifiable Probe Hybridization
    20. Gene Dosage by Multiplex Ligatable Probe Amplification
    21. Array CGH
    22. Microplate Array Diagonal Gel Electrophoresis (MADGE)


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Guide to Mutation Detection
edited by Graham R. Taylor and Ian N. M. Day
2005 330 pages $109.95 + shipping
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