Most common Genetic disorder amongst the white population of Europe and North America.
Caused by a mutant recessive allele in which three dna bases , A,A,A are missing.
It is an example of a deletion mutation .
Deletion results in a single amino acid being left out of the protein.
The lack of this amino acid makes the protein unable to transport chloride ions across the epithelial membranes.
CFTR is a chloride ion channel protein that transports chloride ions out of the epithiel cells . Water then naturally follows by osmosis due to the water potential .
In cystic fibrosis the chloride ions do no leave so the epithelial membranes are therfore dry and the mucus they produce remains viscous and sticky.
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