Cover Image

Guide to mutation detection /

Bibliographic Details
Corporate Author: Human Genome Organisation
Other Authors: Taylor, G. R. (Graham R.), Day, Ian N. M.
Format: Book
Language:English
Published: Hoboken, N.J. : Wiley-Liss, [2005]
Subjects:
DNA Mutational Analysis > instrumentation.
DNA Mutational Analysis > methods.
Gene Dosage.
Polymorphism, Single Nucleotide.
Table of Contents:
  • 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
  • Priniciples 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 microarray
  • Mutation databases
  • Mass spectrometry for high-throughput genotyping
  • Locus-specific mutation databases and nomenclature annex
  • 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
  • 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)