HUM-MOLGEN DIAGnostics/Clinical Research


Cystic Fibrosis

We are exploring the nature of phenotypic heterogeneity associated with some of the mutations that cause cystic fibrosis. One mutation, 3849+10kb C>T, was first described by our group at the University of North Carolina at Chapel Hill (NEJM 331:974-80, 1994). Although this mutation is typically associated with mild lung disease, pancreatic sufficiency and normal sweat chloride values, disease expression can, in fact, be variable, including pancreatic insufficiency and elevated sweats. We are interesting in other loci within the CF gene that might modulate disease expression seen with this mutation. Toward this end, we are seeking anonymous DNA samples from CF patients with this mutation, preferably from patients representing different ethnic groups and a range of disease severities.

Additionally, we are studying the ~2% of CF men who have fathered children, and are seeking anonymous DNA samples to genotype.

Potential collaborators should contact:

Kenneth J. Friedman
Genetics Curriculum
University of North Carolina
1071 East Wing - UNC Hospitals
Chapel Hill, NC 27514 USA
(919) 966-0713 (voice)
(919) 966-0717 (FAX) (E-mail)