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DNA guilds? What is that?
- Thread starter JENNYC
- Start date
savedbygrace
New member
Maybe one way we could do this is to have each "Thread" limited to discussion about a single mutation or a combination of mutations and then go from there? Just throwing ideas out there...there should probably be some administrator-generated organization by each mutation or combination of mutations I think. So that it's easy to find your classification and start discussing with people that are also in the same boat. Thanks for starting this Jeanne!! -Ryan
S
stephen
Guest
As many of you may already know, there is a website, CFTR2.org, that contains quite a bit of data on CF mutations. The site lists The Cystic Fibrosis Foundation, John Hopkins Medicine, and Sequenom CMM on its page headings.
As they state on http://www.cftr2.org/index.php
“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. “
The data comes from “national CF registries and large CF clinics from around the world”.
Of the apparent 39,000 people in the data base, 29,018 have at least one copy of F508del. It is the most common mutation. What I found quite surprising is that only 1651 people have the second most common mutation, G542X. It is therefore not too probable that if we do not have a copy of F508del, there will be someone else whose mutations matches our.
In any event I would highly recommend visiting the CFTR2 website. It can be very informative.
As they state on http://www.cftr2.org/index.php
“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. “
The data comes from “national CF registries and large CF clinics from around the world”.
Of the apparent 39,000 people in the data base, 29,018 have at least one copy of F508del. It is the most common mutation. What I found quite surprising is that only 1651 people have the second most common mutation, G542X. It is therefore not too probable that if we do not have a copy of F508del, there will be someone else whose mutations matches our.
In any event I would highly recommend visiting the CFTR2 website. It can be very informative.