AAMC Sample Test B/B #12

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Functional deficiency almost always denotes a problem at the protein or post-translational level. In other words, the protein is transcribed and translated but does not function. The reason D is not correct is because the gene, in its wild-type, normal form, does contain introns. So if the normal version contains introns, the introns can't be causing the problem.

A genetic defect can manifest in many ways. The fact that it's genetic just means that it's transmissible and you can inherit it. A genetic defect might be something like trisomy where you have a chromosomal problem all the way to a CFTR mutation where you can inherit it and get cystic fibrosis because the protein is misfolded.
 
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