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)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
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Chapter1: The Human Body: An Orientation
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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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