Chapter 4. Identification and Analysis of Genes Involved in Congenital Malformation Syndromes

  1. Patrizia Ferretti2,
  2. Andrew Copp2,
  3. Cheryll Tickle3 and
  4. Gudrun Moore4
  1. Peter J. Scambler

Published Online: 25 JAN 2010

DOI: 10.1002/9780470090121.ch4

Embryos, Genes and Birth Defects, Second Edition

Embryos, Genes and Birth Defects, Second Edition

How to Cite

Scambler, P. J. (2008) Identification and Analysis of Genes Involved in Congenital Malformation Syndromes, in Embryos, Genes and Birth Defects, Second Edition (eds P. Ferretti, A. Copp, C. Tickle and G. Moore), John Wiley & Sons Ltd, Oxford, UK. doi: 10.1002/9780470090121.ch4

Editor Information

  1. 2

    Neural Development Unit/Developmental Biology Unit, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK

  2. 3

    Division of Cell and Developmental Biology, School of Life Sciences, MSI/WTB Complex, University of Dundee, Dow Street, Dundee, UK

  3. 4

    Clinical and Molecular Genetics, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK

Author Information

  1. Molecular Medicine Unit, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK

Publication History

  1. Published Online: 25 JAN 2010
  2. Published Print: 21 NOV 2008

ISBN Information

Print ISBN: 9780470090107

Online ISBN: 9780470090121

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Keywords:

  • identification and analysis of genes - in congenital malformation syndromes;
  • linkage analysis and genome-wide linkage scan;
  • single nucleotide polymorphism (SNP) microarrays;
  • comparative genome hybridization (CGH) microarray analysis;
  • chromosome analysis;
  • chromosomal isodisomy - homozygosity for recessive mutation;
  • array-based comparative genome hybridization (aCGH);
  • denaturing high-performance liquid chromatography (dHPLC);
  • northern blotting - relative abundance of transcripts in tissues;
  • fluorescence resonance energy transfer (FRET)

Summary

This chapter contains sections titled:

  • Gene identification

  • Biological analysis of genes implicated in birth defect syndromes

  • Animal models

  • Why study rare human birth defect syndromes?

  • References