A 50 year old man who has had a myocardial infarct

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38. A 50-year-old man who has had a myocardial infarct was subsequently diagnosed as having familial hypercholesterolemia, an autosomal dominant disorder. His son has not been tested for hypercholesterolemia. What is the probability that the patient's granddaughter, through his son, will have hypercholesterolemia? A ) Less than 1% B ) 10% C ) 25% D ) 33% E ) 50% 39. Actively dividing fibroblasts in culture are transferred from a 37 C incubator to a 0 C ice bath, and 10-6 M colchicine is added to the culture medium. After 30 minutes, many cells have been arrested in mitosis. Which of the following cytoskeletal proteins is most likely to be involved?
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40. Excess accumulation of urate, aggressive behavior, self-mutilation, and mental retardation are seen in patients with Lesch-Nyhan syndrome. Which of the following enzymes is most likely to be deficient in these patients? 41. β-Hexosaminidase is made up of α and β subunits. Tay-Sachs disease is due to a mutation in the α- subunit gene, and Sandhoff disease is due to a mutation in the β subunit gene. If a carrier of Tay-Sachs disease marries a carrier of Sandhoff disease, what is the probability that their first child will have either disease? PHARMA 42. A 40-year-old woman has recurrent calcium-containing renal calculi. Which of the following strategies is most likely to decrease her risk for forming additional calculi? A ) Administration of a thiazide diuretic B ) Alkalinization of the urine C ) Ingestion of a high-oxalate diet D ) Ingestion of a high-protein diet E ) Restriction of fluid intake 43. The nucleotide sequence encoding four amino acids near the amino terminus of a 10- kd protein is 5 ´- ACT GAT TGC GTT -3´. This sequence is mutated by insertion of a single nucleotide (A) in the second codon and becomes 5´- ACT GAA TTG CGT -3´. Which of the following consequences of this mutation is most likely? POSSIBLE ANSWERS: Answer 1 : E This is the starting of gluconeogenesis. Kaplan Biochem 197. Pyruvate is converted to oxaloacetate by the enzyme pyruvate carboxylase in mithocondria, requires ABC (ATP,Biotin and CO2), to get out of the mithocondria it has to be converted to malate by malate dehydrogenase (one of the citric acid cycle enzymes) and take the malate shuttle, when outside it will be converted to oxaloacetate again and the enzyme PEPCK induced by glucagon and cortisol will use it to form PEP and continue the same steps than glycolysis but the opposite and overpass the irreversible enzymes with other Ezs that are : Pathway Produces Fresh Glucose Pyruvate Carboxylase PEPK Fructose 1.6 biphosphatase Glucose 6 phosphatase
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  • Winter '18
  • med
  • DNA

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