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Thread: 105 additional genetic markers that cause CF pinpointed

  1. #1
    Senior Member
    Join Date
    Apr 2011

    105 additional genetic markers that cause CF pinpointed

    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.
    38 year old with CF mom to two wonderful daughters (1 treated for, but not diagnosed with CF) and a supportive husband

  2. #2
    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.

    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

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