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w that although he has clinical findings of CF, his eat chloride concentration is normal. The sweat chlo- e concentration is normal in less than 2% of patients h CF. His pediatrician and parents want to know if A analysis can determine whether he indeed has CF. Would DNA analysis be useful in this case? Briefly outline the steps involved in obtaining a DNA diag- nosis for CF. If he has CF, what is the probability that he is homo- zygous for the AF508 mutation? (Assume that 85% of CF mutations could be detected at the time you are consulted and that his parents are from northern Europe, where the AF508 allele has a frequency of 0.70.) If he does not have the AF508 mutation, does this disprove the diagnosis? Explain.

w that although he has clinical findings of CF, his eat chloride concentration is normal. The sweat chlo- e concentration is normal in less than 2% of patients h CF. His pediatrician and parents want to know if A analysis can determine whether he indeed has CF. Would DNA analysis be useful in this case? Briefly outline the steps involved in obtaining a DNA diag- nosis for CF. If he has CF, what is the probability that he is homo- zygous for the AF508 mutation? (Assume that 85% of CF mutations could be detected at the time you are consulted and that his parents are from northern Europe, where the AF508 allele has a frequency of 0.70.) If he does not have the AF508 mutation, does this disprove the diagnosis? Explain.

Human Anatomy & Physiology (11th Edition)
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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Johnny, 2 years of age, is failing to thrive. Investigations show that although he has clinical findings of CF, his sweat chloride concentration is normal. The sweat chlo- ride concentration is normal in less than 2% of patients with CF. His pediatrician and parents want to know if DNA analysis can determine whether he indeed has CF. a. Would DNA analysis be useful in this case? Briefly outline the steps involved in obtaining a DNA diag- nosis for CF. b. If he has CF, what is the probability that he is homo- zygous for the AF508 mutation? (Assume that 85% of CF mutations could be detected at the time you are consulted and that his parents are from northern Europe, where the AF508 allele has a frequency of 0.70.) c. If he does not have the AF508 mutation, does this disprove the diagnosis? Explain.
Transcribed Image Text:Johnny, 2 years of age, is failing to thrive. Investigations show that although he has clinical findings of CF, his sweat chloride concentration is normal. The sweat chlo- ride concentration is normal in less than 2% of patients with CF. His pediatrician and parents want to know if DNA analysis can determine whether he indeed has CF. a. Would DNA analysis be useful in this case? Briefly outline the steps involved in obtaining a DNA diag- nosis for CF. b. If he has CF, what is the probability that he is homo- zygous for the AF508 mutation? (Assume that 85% of CF mutations could be detected at the time you are consulted and that his parents are from northern Europe, where the AF508 allele has a frequency of 0.70.) c. If he does not have the AF508 mutation, does this disprove the diagnosis? Explain.
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