Who are we?
The mission of the CFF Genotyping Center is
- 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
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.
Policy - Please read.]