Molecular Genetics — Flashcards

What pathology is associated with a defect in the enzyme N-acetylglucosaminyl-1-phosphotransferase? _____

In females, one of two X-chromosomes is condensed and its genes turned off by _____, forming heterochromatin (lyonization)

Hint: specific action

What is the difference (structurally) between thymine and uracil? _____

When exposed to conditions that favor the taut form of Hemoglobin, HbS _____ and forms needle-like structures ("sickle cells")

Which purine is characterized by an amino group at the 12 o'clock position? _____

The _____ type of Ehlers-Danlos syndrome (joint and skin symptoms) is caused by a mutation in type V collagen

Which pyrimidine is found in RNA only? _____

_____ have no nucleus or membrane bound organelles

Hint: Prokaryotes or Eukaryotes

What is the mode of inheritance of alkaptonuria? _____

_____ are small, noncoding RNA molecules that post-transcriptionally regulate protein expression