USMLE Forums banner

pregnant woman with autosomal recessive disease

3189 Views 6 Replies 4 Participants Last post by  sam01
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
1 - 7 of 7 Posts
Hmm nice question. So this is cystic Fibrosis, and I am guessing u're testing for DNA mutation so C, southern?
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
  • Like
Reactions: 5
thx sam

damn... hmm.. biochem.. biochem. there must be an easier way to grasp the concepts in biochem.
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...
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
  • Like
Reactions: 2
1 - 7 of 7 Posts
This is an older thread, you may not receive a response, and could be reviving an old thread. Please consider creating a new thread.