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Old 04-13-2010
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Default pregnant woman with autosomal recessive disease

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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Old 04-13-2010
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Hmm nice question. So this is cystic Fibrosis, and I am guessing u're testing for DNA mutation so C, southern?
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Old 04-14-2010
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Default C?

C-southern blot?
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Old 04-14-2010
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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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Old 04-15-2010
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Default thx sam

damn... hmm.. biochem.. biochem. there must be an easier way to grasp the concepts in biochem.
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Old 04-15-2010
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I think it's bad because we all followed the exact same thought process for this one... Thank you sam01... I have to keep my eyes open and make sure I read all the options...
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Old 04-15-2010
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Guys ,keep in mind that Southern blots are used to study genomic DNA on a gross level and could not be used to see a single base-pair deletion
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