Cf major vs CF minor

sweetninis

New member
Why is that when a person has one mutated cf gene ie. cf minor they live normal lives and unfortunately when person get two mutated cf gene they get caught up in life threatening disease CF why is that so?what is the difference in normal person having both normal gene and a cf carrier?
 
G

giantsfan91

Guest
The CF gene is a recessive trait which means that it takes two mutated genes (1 from each parent) to show signs of CF. The same can be said for blue eyes or red hair, those are also examples of recessive mutated genes. Had the CF gene been a dominate trait, only one copy of the mutated gene would be needed to show signs of CF.
 

Beccamom

New member
I am not a medical professional, but my doctor explained that CF disease causing mutations decrease the CFTR function. For example, a stop codon decreases the CFTR function by 50%. He explained that a person may be fine with 50% function such as a carrier, but that 10% or less definitely causes CF symptoms. So between 50% function and 10% function is the grey area that different people present differently in.
 

Printer

Active member
sweetninis:

That is called faulty logic. If you recieve two genes for eye color, one brown and one blue, and you have brown eyes. It doesn't mean that you have blue eyes but you just don't see them.



Bill
 

albino15

New member
The way I understand it (feel free to correct me if i'm wrong) is that the human body only needs one working CFTR gene for everything to function normally. In the case of carriers, It's like the working one takes over for the not working one.

According to some people on this site, there are symptomatic carriers.
 

CyrilCrodius

New member
albino is right. Note that the reason why DF508 is so frequent today is because it helped the carriers of that mutation survive dehydration caused by cholera during an epidemic long, long ago. So it isn't completely asymptomatic.
 
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