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Review: neuroscience for neurologists
Neurogenetics: single gene disorders
  1. S-M Pulst
  1. Division of Neurology, Cedars-Sinai Medical Center, Departments of Medicine and Neurobiology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
  1. Correspondence to:
 Dr S-M Pulst
 8631 West Third Street, Suite 1145, Los Angeles, CA 90048, USA; pulstcshs.org

Abstract

The advent of molecular biology has changed the way in which neurological illnesses are classified, and the single genes causing a number of disorders have been identified. In addition, techniques such as linkage analysis and DNA sequencing have resulted in greater understanding of multi-gene diseases. This review covers some of the molecular tools and animal models used for genetic analysis and for DNA based diagnosis, and a brief survey of information available on the internet.

  • ddNTPs, dideoxynucleotide triphosphates
  • dNTPs, deoxynucleotide triphosphates
  • PCR, polymerase chain reaction
  • RFLPs, restriction fragment length polymorphisms

https://doi.org/10.1136/jnnp.74.12.1608

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