PDA

View Full Version : 105 additional genetic markers that cause CF pinpointed



Beccamom
08-26-2013, 09:40 PM
http://medicalxpress.com/news/2013-08-additional-genetic-errors-cystic-fibrosis.html

Can someone help explain what this article means? Does this mean that of the 1900 mutations known in the CFTR gene before only 22 were thought to be disease causing and now 127 are thought to be disease causing?

thanks for any input.

stephen
08-26-2013, 11:00 PM
This web site, a product of The Cystic Fibrosis Foundation, Johns Hophins Medicine, and Sequenom contains a wealth of information that should provide
answers to your questions.

http://www.cftr2.org/index.php

As it states:

Welcome to the Clinical and Functional Translation of CFTR (CFTR2) website
CFTR2 is a website designed to provide information about specific cystic fibrosis (CF) mutations to patients, researchers, and the general public. For each mutation included in the database, the website will provide information about:

Whether the mutation causes cystic fibrosis when combined with another CF-causing mutation, and
Information about the sweat chloride, lung function, pancreatic status, and pseudomonas infection rates in patients in the CFTR2 database with this mutation