Graham R. Taylor, Ian N. M. Day

Guide to Mutation Detection

Herausgegeben:Taylor, Graham R.; Day, Ian N.; Human Genome Organization (HUGO)

• Gebundenes Buch

Produktbeschreibung

As genomic science and potential gene therapies continue to develop, the detection of mutations plays an increasingly central role in diverse areas of biology. With innumerable detection techniques available spanning multiple disciplines, the choice of the best method for a particular study can prove exceedingly difficult. Complexity, equipment requirements, cost, and throughput are all factors to consider, along with the huge amount of information already available through genome sequencing projects.
An essential go-to for informed decision-making, the 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)
Throughout the text, the emphasis remains on practical applications. The detailedprotocols derive from the well-regarded Human Genome Organization (HUGO) training course, particularly those in Montpellier, France, 2002, organized by Mirielle Claustres, Johan den Dunnen, and Graham Taylor. 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 students and practitioners working across a wide range of genetics-related disciplines.

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Produktdetails

• Verlag: Wiley & Sons
• Artikelnr. des Verlages: 14623444000
• 1. Auflage
• Seitenzahl: 330
• Erscheinungstermin: 3. Februar 2005
• Englisch
• Abmessung: 254mm x 178mm x 19mm
• Gewicht: 575g
• ISBN-13: 9780471234449
• ISBN-10: 0471234443
• Artikelnr.: 13176668

Autorenporträt

A wizard with words and a man of the bush. Aaron is a 25-year-old father of two and a beloved husband. He has spent five years assisting the bush to regenerate in the South Coast of New South Wales, and spent far too much of that time daydreaming and fantasizing. The Wizard and the Birdsong is the first fruit of his laborious fantasizing, and a gift he hopes will be read by families all over the world to help honour old ways of community-mindedness and caring for our loved ones.

Inhaltsangabe

Preface. PART I: REVIEWS. 1. Genotype to Phenotype (Sue Malcolm). 2.
Frequency and Nature of Mutations and the Methods to Detect Them (Mireille
Claustres). 3. A Full-Coverage, High-Resolution Human Chromosome 22
Microarray for Clinical and Research Applications (Jan P. Dumanski and
Patrick G. Buckley). 4. Detection of Large Heterozygous Deletions and
Duplications (Mario Tosi). 5. Principles of Mutation Scanning by DHPLC
(John F. Harvey). 6. Enzymatic and Chemical Cleavage Methods (Richard G. H.
Cotton). 7. Quality in Mutation Detection (David E. Barton). 8. Comparison
of Scanning Methods for BRCA1 Mutation Analysis (Norbert Arnold). 9.
MeltMADGE: Economical Very High-Throughput Mutation Scanning Using Thermal
Ramp Electrophoresis in Conjunction with MADGE (Microplate Array) Gels (Ian
N. M. Day, Mohammed A. Aldahmesh, Lema Haddad, Khalid K. Alharbi, Xiao-he
Chen, Hamid Rassoulian, Steve E. Humphries, Emmanuel Spanakis, and Diana
Eccles). 10. High-Throughput SNP Genotyping by Minisequencing Primer
Extension Using Oligonucleotide Microarrays (Katarina Lindroos, Ulrika
Liljedahl, Snaevar Sigurdsson, and Ann-Christine Syvänen). 11. Mutation
Databases (Rania Horaitis and Richard G. H. Cotton). 12. Mass Spectrometry
for High-Throughput Genotyping (Ivo Glynne Gut). 13. Locus-Specific
Mutation Databases and Nomenclature Annex (Christophe Beroud). PART II:
METHODS. 14. Extraction of Nucleic Acids (Graham R. Taylor). 15. Polymerase
Chain Reaction and ARMS (Mark D. Robinson and Graham R. Taylor). 16.
Minisequencing and Capillary Electrophoresis (Darren Cuthbert-Heavens). 17.
SNP Genotyping Using Tag-Array Minisequencing (Snaevar Sigurdsson and
Ann-Christine Syvänen). 18. Dynamic Allele-Specific Hybridization (Darren
Cuthbert-Heavens). 19. Fluorescence Polarization SNP Detection (PerkinElmer
Life Sciences, Inc.). 20. Pyrosequencing (Pyrosequencing AB). 21. Single
Nucleotide Polymorphisms (SNPs) by Electronic Hybridization (Nanogen). 22.
Manual SSCP and Heteroduplex Analysis Gels (Mark D. Robinson). 23.
Fluorescent SSCP: Slab Gels and Capillary Electrophoresis (Lucy Jenkins and
Ruth Charlton). 24. Denaturing Gradient Gel Electrophoresis (Gert de Voss).
25. Protein Truncation Test (Mark D. Robinson). 26. DHPLC (Claire F.
Taylor). 27. Temperature-Gradient Capillary Electrophoresis (Spectrumedix
Corp.). 28. Chemical Cleavage of Mismatch and Enzyme Mismatch Cleavage
(Richard G. H. Cotton). 29. Automated Dye Terminator Sequencing (Ruth
Charlton). 30. Mutation Detection with the Staden Package (James Bonfield
and David Judge). 31. Gene Dosage by Semiquantitative PCR (Kim Flintoff).
32. Gene Dosage by Multiplex Amplifiable Probe Hybridization (David
Cockburn and Helen Snowden). 33. Gene Dosage by Multiplex Ligatable Probe
Amplification (Jan Schouten and Ruth Charlton). 34. Array CGH (Jan P.
Dumanski and Patrick G. Buckley). 35. Microplate Array Diagonal Gel
Electrophoresis (MADGE) (Ian N. M. Day). Index.

Rezensionen

"...a useful tool..." ( American Journal of Human Genetics , August 2005)
"...an honest attempt to assemble useful and practical information within this book." ( ChemBioChem , 2005; Vol.6; 6)