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Human Genetics

, Volume 70, Issue 2, pp 168–171 | Cite as

Quantitative variation in cystic fibrosis-associated proteins in cystic fibrosis patients, carriers, and controls

  • A. Jamieson
  • Elizabeth Mackinlay
  • D. A. Aitken
  • A. Cooke
  • M. A. Ferguson-Smith
Original Investigations

Summary

Serum samples from patients with cystic fibrosis (CF), obligate heterozygotes, and normal controls have been examined by isoelectric focusing (IEF). Our results suggest that cystic fibrosis protein (CFP) is a normal serum protein exhibiting quantitative variation primarily dependent on possession of the CF allele. It is concluded that detection of CFP by IEF is an inappropriate screening test for the CF gene due to lack of specificity.

Keywords

Internal Medicine Cystic Fibrosis Serum Sample Normal Control Metabolic Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1985

Authors and Affiliations

  • A. Jamieson
    • 1
  • Elizabeth Mackinlay
    • 1
  • D. A. Aitken
    • 1
  • A. Cooke
    • 1
  • M. A. Ferguson-Smith
    • 1
  1. 1.Duncan Guthrie Institute of Medical GeneticsGlasgowScotland

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