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Who are we?

The mission of the CFF Genotyping Center is to:

  • determine the CFTR mutations in patients with unusual forms of Cystic Fibrosis to gain insight into structure/ function relationships of CFTR
  • coordinate collection of genotype/phenotype information on mutations identified in patients with unusual forms of CF, and to make this information available in aggregate form on a website.

The purpose of the center is to increase and facilitate communication between CF researchers and clinicians who are working with patients who may have non-classic forms of CF.

Our genotyping study is drawing to a close and we are no longer accepting patients on a regular basis. Clinical CFTR sequencing is available at a number of laboratories (click here for a link to our clinical counterpart - the Johns Hopkins DNA Diagnostic Laboratory). We sincerely thank all of the referrers and families who agreed to be a part of the study. The next phase of our project involves the organization and posting of a detailed genotype/phenotype database on this site. Please return to the site to check our progress.

Though the genotyping study is ending, CF related research is ongoing in the Cutting Lab. If you have a patient you believe may fit one of the other study protocols, please call 410-955-1773.

One important product of our endeavors is confirming that the penetrance of the 5T variant is influenced by TG tract length in intron 8 (Groman et al. Am J Hum Genet, 2004 in press). Please click here to see a 5T fact card developed as a brief review of 5T and an introduction to the role of the TG tract.

Researchers may use the information in the database for research and/or may add to the database using the forms provided. 
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Send mail to bkarczes@jhmi.edu with questions or comments about this web site.
Copyright 2000 Cystic Fibrosis Foundation Genotyping Center
Last modified: February 27, 2000