What Is Cystic Fibrosis?
mother helping young son with at home inhalation Cystic fibrosis (CF) is a genetic condition that affects a protein in the body. People who have cystic fibrosis have a faulty protein that affects the body’s cells, tissues, and the glands that make mucus and sweat.
Mucus is normally slippery and protects the linings of the airways, digestive tract, and other organs and tissues. People who have cystic fibrosis make thick, sticky mucus that can build up and lead to blockages, damage, or infections in the affected organs. Inflammation also causes damage to organs such as the lungs and pancreas.
Some people who have cystic fibrosis have few or no symptoms, while others experience severe symptoms or life-threatening complications. Symptoms of cystic fibrosis depend on which organs are affected and the severity of the condition. The most serious and common complications of cystic fibrosis are problems with the lungs, also known as pulmonary or respiratory problems, which may include serious lung infections. People who have cystic fibrosis often also have problems maintaining good nutrition, because they have a hard time absorbing the nutrients from food. This is a problem that can delay growth.
Your doctor may recommend treatments to improve lung function and prevent or manage complications. Early treatment can improve your quality of life and help you live longer.
A healthy 23 year old Maria comes to the physician for genetic counseling with her husband John. She would like to become pregnant in the near future, but have concerns that their offspring may develop Cystic fibrosis, her sister Helen has Cystic fibrosis, an autosomal recessive disorder with an incidence of approximately one in 9000 in this particular population. Nothing is known about a history of this genetic disorder in the John family.
A) What is the probability of John being a carrier?
B) What is the probability of the couple having an affected child?
C) What is the probability of the couple having an unaffected child?
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