Friday, July 18, 2014

CF, Not Your Average Genetics

There are so many unknowns with Cystic Fibrosis. 



Here goes the teacher part...........

CF is a recessive trait, meaning a person has to have the recessive CF gene from both parents.  In "basic" genetics there is a 1/4 chance of a recessive trait showing up in offspring.  If an individual has a dominant and recessive gene then they are carriers of CF, in this specific trait.  A dominant gene does not always mean it is a better trait, a recessive gene does not mean it's a bad trait, just a dominant has a better chance of showing.  Brown eye color is dominant to blue eye color, having 6 fingers is dominant to having 5 fingers (yes, it's true),  if you can roll your tongue that's dominant, etc.  You have your straight dominant and recessive, then you get into the co-dominance......   Google genetics.  It's pretty interesting.

There are 23 pairs of chromosomes in each cell in your body.  Here is chromosome 7, where Cade's CF gene is located.  That one little spot is what is causing such a problem.  CFTR gene



OK, enough of the genetics lesson for the day. 
 
CF is one of these diseases that doesn't follow genetics like it is supposed to.  No two people have the same exact symptoms, even if they have the same genetic combination.  Cade is a rare one - one of his mutations, 48% of the CF population has, but with his second mutation he is only the 40th person in the world to have.  He is only the 26th person in the world to have the 2 mutation combination he has.  As much as it sucks that he has this disease, I think it's kind of neat that he is so unique and stands out.  (From a science standpoint, yes, I'm weird like that.) 
 
So, a person who is just a carrier of CF shouldn't have any CF symptoms.  Doctor's will not tell you, as a carrier, it is impossible to show any symptoms of CF.  Not so much.  Through reading articles and researching CF I have found many carriers of CF DO show symptoms - some respiratory, some digestive.  But that's not possible, hmmmmm. 
 
Cystic Fibrosis could be the disease that disproves genetics as we know it. 
 
 

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