1. Which organs are affected by cystic fibrosis? What are symptoms of the disease?
Cystic fibrosis is an inherited disorder that causes severe damage to the lungs and digestive system. It affects the cells that produce mucus, sweat and digestive juices that are normally thin and slippery but in people with cystic fibrosis, a defective gene causes the secretions to become thick and sticky so that they no longer act as a lubricant, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas (Cystic fibrosis 2015).
Symptoms of the respiratory system can be caused from the thick, sticky mucus that clogs the tubes that carry air in and out of your lungs causing symptoms of persistent cough that produces mucus, wheezing, breathlessness, repeated lung infections and inflamed nasal passages or a stuffy nose (Cystic fibrosis 2015).
In the digestive system, the thick mucus can also block tubes that carry digestive enzymes from the pancreas into the small intestine =, this can lead to symptoms of foul-smelling, greasy stools, poor weight gain and growth, intestinal blockage, particularly in newborns, severe constipation (Cystic fibrosis 2015).
2. Draw a pedigree of Sarah and Michael’s family- see attached.
3. Construct a Punnet square- see attached
4. See attached
5. Look closely at the section “allelic variants”. Is the delta –F508 mutation the only known alteration of the CFTR gene?
No, the delta 508 is not the only known mutation. One study found patients that had found a G-to-T donor splice site mutation after codon 621 and the A455E mutation. Another mutation that is mentioned is the gly542 to ter.
6. As you look at the list of allelic variants, how does the information in brackets describe each mutation?
Brackets show non-diseases, mainly genetic variations that lead to apparently abnormal laboratory test values.
7. The CFTR gene contains how many exons? How many introns? Sketch a...