Phenotypic heterogeneity in cystic fibrosis

Am J Med Genet. 1982 Oct;13(2):179-95. doi: 10.1002/ajmg.1320130209.


We have confirmed heterogeneity in CF using a different combination of primary clinical variables than those used in previous studies. Subgroupings of individuals with similar levels of sweat chloride were independent of the clustering based on level of pancreatic enzyme supplementation and degree of pulmonary involvement. Data from families with multiple CF children are consistent with the hypothesis that the genetic etiology of CF involves two or more genes that modify the expression of the primary gene defect.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Continental Population Groups
  • Cystic Fibrosis / diagnosis
  • Cystic Fibrosis / genetics*
  • Diagnosis, Differential
  • Female
  • Genetic Variation*
  • Humans
  • Male
  • Pedigree
  • Phenotype