A 25-year-old female comes to the clinic complaining of fatigue and palpitations. She has been undergoing immense stress from her thesis defense and has been extremely tired. The patient denies any weight loss, diarrhea, cold/heat intolerance. TSH was within normal limits. She reports a family history of "blood disease" and was later confirmed positive for β-thalassemia minor. It is believed that abnormal splicing of the beta globin gene results in β-thalassemia. What is removed during this process that allows RNA to be significantly shorter than DNA?
A3'-poly(A) tail
BExons
CIntrons
DmicroRNAs
EsnRNPs
A 4-year-old boy with beta thalassemia requires regular blood transfusions a few times per month because of persistent anemia. He is scheduled for a splenectomy in the next several months. Samples obtained from the boy’s red blood cells show a malformed protein with a length of 160 amino acids (in normal, healthy red blood cells, the functional protein has a length of 146 amino acids). Which of the following best accounts for these findings?
ANonsense mutation
BSilent mutation
CMissense mutation
DSplice site mutation
EFrameshift mutation
A 33-year-old man presents to his physician with a 3-year history of gradually worsening tics and difficulty walking. He was last seen by the physician 5 years ago for anxiety, and he has been buying anti-anxiety medications from an internet website without a prescription as he cannot afford to pay for doctor’s visits. Now, the patient notes that his anxiety is somewhat controlled, but motor difficulties are making it difficult for him to work and socialize. Family history is unobtainable as his parents died in an accident when he was an infant. He grew up in foster care and was always a bright child. An MRI of the brain is ordered; it shows prominent atrophy of the caudate nucleus. Repeats of which of the following trinucleotides are most likely responsible for this patient’s disorder?
ACCG
BCTG
CCGG
DCAG
EGAA
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