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Genotype–Phenotype Relationships: Fatal Familial Insomnia and Creutzfeldt–Jakob Disease

  1. Lev G Goldfarb

Published Online: 27 JAN 2006

DOI: 10.1038/npg.els.0006037

eLS

eLS

How to Cite

Goldfarb, L. G. 2006. Genotype–Phenotype Relationships: Fatal Familial Insomnia and Creutzfeldt–Jakob Disease. eLS. .

Author Information

  1. National Institute of Neurological Disorders and Stroke, Bethesda, Maryland, USA

Publication History

  1. Published Online: 27 JAN 2006

Abstract

Some of the thousands of DNA polymorphisms identified in the coding regions of human genes affect functional characteristics of the encoded proteins and may predispose an individual to complex trait disorders such as diabetes, asthma, atherosclerosis and Parkinson disease. ‘Nonpathogenic’ DNA polymorphisms can modify the phenotypic expression of Mendelian disorders; a striking example of such influence is a DNA variation identified at codon 129 of the PRNP (prion protein) gene that determines the phenotypic expression of two separate disorders.

Keywords:

  • DNA polymorphism;
  • PRNP gene;
  • prion;
  • transmissible spongiform encephalopathy;
  • fatal familial insomnia;
  • Creutzfeldt–Jakob disease;
  • genotype–phenotype correlation