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Discussion Starter · #1 ·
A woman trying to get pregnant has a sister whose child has an autosomal recessive disease characterized by dysfunction of mucus-secreting cells. As a result, this child has abnormally thick mucus that tends to precipitate into dense plugs that obstruct the pancreatic ducts, bronchi, and bronchioles, as well as the bile ducts. Which of the following tests could be performed to determine if this woman and her husband are carriers of this disease?


A. Northern blot
B. PCR and sequencing
C. Southern blot
D. Western blot
 

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Discussion Starter · #4 ·
sorry guys, B is correct.Yes it is cystic fibrosis but the most frequent mutation in this autosomal recessive disorder is a small deletion of a phenylalanine at position 508. An amplification of this region using PCR can be done and then that portion sequenced to see how it compares to the normal sequence
 
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