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A 46-year-old member asked:

What type of genetic dysfunction results in the condition known as cystic fibrosis?

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Dr. James Ferguson
Pediatrics 46 years experience
Recessive gene: A mutation is carried in the dna of both unaffected parents & that matching or similar mutation is paired up at conception when the sperm & egg form completed chromasomes with the defective info. Late in pregnancy and after delivery, the effect of the CF gene abnormality begins to reveal itself. In carriers, the good gene compensates for the bad & no problems occur.
Dr. William Walsh
Addiction Medicine 17 years experience
Cftr: The cftrthe gene codes for a sodium chloride transporter in epithelial cells. Its absence leads to thick, gel like mucus in the airway, pancrease (pancrelipase) and gut. The secretions become infected, the airway and pancrease (pancrelipase) fail, and problems ensue.

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Last updated Oct 3, 2016

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