Drugs! Experiments! Buffers!
DNA is digested with restriction enzymes, electrophoresed, transferred to a membrane, and exposed to a labeled DNA probe.
Southern blot
Transketolase activity can be used to assess deficiency of which vitamin?
Vitamin B1 (thiamine)
Which trinucleotide repeat expands in Huntington disease?
CAG
An infant has cardiomegaly, hypotonia, and lysosomal glycogen accumulation.
Pompe disease
cAMP binds which regulatory protein to stimulate lac operon transcription?
CAP
Carbon monoxide decreases O₂-carrying capacity while increasing the affinity of remaining heme sites for O₂. Which direction does the Bohr curve shift?
Left
A patient develops easy bruising and prolonged PT after several weeks of broad-spectrum antibiotics. Which vitamin is deficient?
Vitamin K
Loss of maternally derived chromosome 15 expression causes seizures, intellectual disability, inappropriate laughter, and ataxia.
Angelman syndrome
Which TCA enzyme also functions as ETC Complex II?
Succinate dehydrogenase
A monosaccharide changes between its α and β forms in solution.
Mutarotation
A patient with metabolic acidosis has a negative urine anion gap. What GI process is most likely?
Diarrhea
A child has developmental delay, downward lens subluxation, and recurrent thrombosis. Some patients improve with high-dose supplementation of which vitamin?
Pyridoxine (B6)
A Huntington patient develops symptoms much earlier than his affected father. What phenomenon explains this?
Anticipation
Rotenone inhibits which ETC complex?
Complex I
What organism classically causes recurrent pulmonary infections early in life in cystic fibrosis?
Staphylococcus aureus
A vinca alkaloid prevents microtubule polymerization and causes metaphase arrest. Name one.
Vincristine or vinblastine
A patient develops episodic flushing, watery diarrhea, bronchospasm, and right-sided valvular disease with elevated urinary 5-HIAA. What is the diagnosis?
Carcinoid syndrome
Myotonia, weakness, cataracts, frontal balding, and testicular atrophy indicate which repeat-expansion disorder?
Myotonic dystrophy
Elevated plasma lysosomal enzymes suggest that what group is not being added to these proteins?
Mannose-6-phosphate (I-cell disease)
What happens to trp operon transcription when intracellular tryptophan is high?
It is repressed
Ifosfamide neurotoxicity due to chloroacetaldehyde accumulation can be treated with what drug?
Methylene blue
A patient has loss of proprioception and vibration sense with spinocerebellar dysfunction but preserved lateral corticospinal tract function. Which vitamin deficiency is responsible?
Vitamin E deficiency
A child inherits two chromosome 15 copies from his mother and none from his father. What phenomenon?
Uniparental disomy
Arachnodactyly, upward lens subluxation, and aortic root dilation result from mutation of a protein originating from what chromosome?
Chromosome 15 (Fibrillin on FBN1 gene)
Impaired α-oxidation of branched-chain fatty acids causes accumulation of phytanic acid. What disease?
Refsum disease