Molecular Basis of Genetic Disorders of the Heart

  • Paul J. R. Barton
  • Kenneth R. Boheler
  • Nigel J. Brand
  • Penny S. Thomas
Part of the Medical Intelligence Unit book series (MIU.LANDES)

Abstract

In recent years, advances in the methodology of molecular biology have provided an extraordinarily sophisticated set of tools with which to determine the molecular basis of inherited genetic disorders.1,2 In many cases this has led to the development of improved diagnostic techniques and the design of experiments that hold promise for the eventual treatment of genetic diseases. The application of reverse genetics (positional cloning) and “candidate gene” deduction has led to the identification of the disease loci or, in some cases, the affected genes, including: cystic fibrosis (CF), Duchenne muscular dystrophy (DMD), Huntington’s disease and some inherited cardiac disorders such as familial hypertrophic cardiomyopathy (FHC), Marfan syndrome (MFS) and DiGeorge syndrome.

Keywords

Recombination Cysteine Electrophoresis Proline Polypeptide 

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Copyright information

© Springer-Verlag Berlin Heidelberg 1995

Authors and Affiliations

  • Paul J. R. Barton
    • 1
  • Kenneth R. Boheler
    • 1
  • Nigel J. Brand
    • 1
  • Penny S. Thomas
    • 1
  1. 1.Molecular Biology Group Department of Cardiothoracic SurgeryNational Heart and Lung InstituteLondonUK

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