Gene therapy approaches — MCQs

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?

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?

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?

A group of scientists is conducting an experiment on the human cells involved in the immune response. They genetically modify B cells so they do not express the cluster of differentiation 21 (CD21) on their cell surfaces. The pathogenesis of which of the following organisms would most likely be affected by this genetic modification?

A 35-year-old female presents to the emergency room complaining of diarrhea and dehydration. She has been experiencing severe watery diarrhea for the past 3 days. She reports that she has been unable to leave the bathroom for more than a few minutes at a time. The diarrhea is profuse and watery without visible blood or mucus. She recently returned from a volunteer trip to Yemen where she worked at an orphanage. Her past medical history is notable for psoriasis for which she takes sulfasalazine. The patient drinks socially and does not smoke. Her temperature is 99°F (37.2°C), blood pressure is 100/55 mmHg, pulse is 130/min, and respirations are 20/min. Mucous membranes are dry. Her eyes appear sunken. Capillary refill is 4 seconds. The patient is started on intravenous fluid resuscitation. Which of the following processes is capable of transmitting the genetic material for the toxin responsible for this patient's condition?

A 9-year-old boy is brought to the emergency department by his parents after a 2-day history of fever, productive cough, and severe dyspnea. The parents report that the boy had no health problems at birth but developed respiratory problems as an infant that have continued throughout his life, including recurrent pulmonary infections. Vital signs include: temperature of 37.5ºC (99.5ºF), pulse of 105/min, respiratory rate of 34/min, and SpO2 of 87%. Physical examination shows digital clubbing and cyanosis. Chest X-rays show hyperinflation of the lungs and chronic interstitial changes. The boy’s FEV1/FVC ratio is decreased, and his FRC is increased. The resident reviewing his case is studying new gene therapies for this boy’s condition that will reintroduce the gene for which this boy is defective. An important component of this therapy is identifying a vector for the selective introduction of the replacement gene into the human body. Which of the following would be the best vector to provide gene therapy for this boy’s respiratory symptoms?

An investigator is studying the mechanism of HIV infection in cells obtained from a human donor. The effect of a drug that impairs viral fusion and entry is being evaluated. This drug acts on a protein that is cleaved off of a larger glycosylated protein in the endoplasmic reticulum of the host cell. The protein that is affected by the drug is most likely encoded by which of the following genes?

A healthy 30-year-old woman comes to the physician with her husband for preconception counseling. Her husband is healthy but she is concerned because her brother was recently diagnosed with a genetic liver condition for which he takes penicillamine. Her father-in-law has liver cirrhosis and a tremor. The results of genetic testing show that both the patient and her husband are carriers of a mutation in the ATP7B gene. Which of the following is the chance that this patient’s offspring will eventually develop the hereditary condition?

Although nucleotide addition during DNA replication in prokaryotes proceeds approximately 20-times faster than in eukaryotes, why can much larger amounts of DNA be replicated in eukaryotes in a time-effective manner?

An investigator is studying the effect of chromatin structure on gene regulation. The investigator isolates a class of proteins that compact DNA by serving as spools upon which DNA winds around. These proteins are most likely rich in which of the following compounds?