Chapter·BiochemistryMolecular Genetics

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1

A 6-year-old child presents for evaluation of a medical condition associated with recurrent infections. After reviewing all of the medical history, gene therapy is offered to treat a deficiency in adenosine deaminase (ADA). ADA deficiency is the most common autosomal recessive mutation in which of the following diseases?

AWiskott-Aldrich Syndrome

BBruton's Agammaglobulinemia

CSevere Combined Immunodeficiency

DDiGeorge Syndrome

EHyper-IgM Syndrome

2

A virology student is asked to identify a sample of virus. When subjected to a nonionic detergent, which disrupts lipid membranes, the virus was shown to lose infectivity. The student then purified the genetic material from the virus and subjected it to treatment with RNase, an enzyme that cleaves the phosphodiester linkages in the RNA backbone. A minute amount of the sample was then injected into a human cell line and was found to produce viral particles a few days later. Which of the following viruses was in the unknown sample?

ATogavirus

BHepevirus

CCalicivirus

DAdenovirus

EHerpesvirus

3

A 13-year-old Caucasian male presents with his father to the pediatrician’s office complaining of left lower thigh pain. He reports slowly progressive pain over the distal aspect of his left thigh over the past three months. He denies any recent trauma to the area. His temperature is 100.9°F (38.3°C). On exam, there is swelling and tenderness overlying the inferior aspect of the left femoral diaphysis. Laboratory evaluation is notable for an elevated white blood cell (WBC) count and erythrocyte sedimentation rate (ESR). Biopsy of the lesion demonstrates sheets of monotonous small round blue cells with minimal cytoplasm. He is diagnosed and started on a medication that inhibits transcription by intercalating into DNA at the transcription initiation complex. Which of the following adverse events will this patient be at highest risk for following initiation of this medication?

APeripheral neuropathy

BBone marrow suppression

CGingival hyperplasia

DPulmonary fibrosis

EHemorrhagic cystitis

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