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High Yield Warm-up Questions: Biochemistry, Part A GENERAL PRINCIPLES SET 1: BIOCHEMISTRY, PART A A 10-month-old infant was brought to the physician by Spanish-speaking parents because of continued jaundice and pallor A series of lab tests were ordered Hemoglobin analysis revealed no structural abnormalities The Hb level was 5.6 g/dl (normal is 12-16 g/dl) In addition, there was a very low amount of β−globin protein in the red blood cells, with an abnormal ratio of α- and β−globin proteins What is the most likely diagnosis? How is the hemoglobin information related to the phenotype in this infant? Explain two molecular reasons that could account for the infant’s problem? A man was referred by his family practitioner to a university hospital in order to determine the cause of his frequent bouts of hypoglycemia In one test, he was injected with glucagon after fasting overnight and his blood glucose was restored to normal In another test, he was injected with cortisol, but his blood glucose was not restored to normal Further blood tests indicated that the patient was extremely deficient in zinc He was given zinc supplementation and the number of hypoglycemic episodes gradually decreased Explain how glucagon and cortisol normally increase blood glucose at the genetic level? Why was zinc supplementation successful at decreasing his bouts of hypoglycemia? 1 High Yield Warm-up Questions: Biochemistry, Part A If the zinc supplementation did not correct the problem, what else could be the problem? An Italian couple is undergoing genetic counseling with their physician regarding the upcoming birth of their first child The husband remarks that while he is completely healthy, his father who was frequently susceptible to infections and jaundice, died after an episode of eating a heavy meal containing fava beans The wife remarks that her father died of a disease that was found to be β-thalassemia What type of inheritance pattern would be shown by β-thalassemia? What type of disease was indicated by the man’s father and what is its inheritance pattern? If amniocentesis were done and the fetus found to be a male, what would be the predicted outcome regarding βthalassemia? If amniocentesis were done and the fetus found to be a male, what would be the predicted outcome regarding the disease that killed the man’s father? If amniocentesis were done and the fetus found to be a female, what would be the predicted outcome regarding β-thalassemia? If amniocentesis were done and the fetus found to be a female, what would be the predicted outcome regarding the disease that killed the man’s father? High Yield Warm-up Questions: Biochemistry, Part A The data below shows the pedigree of a family and the results of electrophoresis of PCR amplified DNA using probes for the site, which has been shown to be altered in Fragile X Syndrome The grandmother began to display mild symptoms of Fragile X Syndrome when she was 42 years old Two of her three children began to have symptoms of Fragile X earlier in life The age at which the symptoms first began is shown by the number above the PCR amplified band The daughter was found to be pregnant just before the onset of symptoms The prognosis for the fetus is what is desired I I II II II II III II I II I II III II 10 What is the relevant gene associated with Fragile X Syndrome? 11 What term refers to a pattern of inheritance in which individuals in the most recent generation of a pedigree develop a disease at an earlier age or with greater severity than those in an earlier generation? 12 What is the prognosis for the fetus? 3 High Yield Warm-up Questions: Biochemistry, Part A A 50-year old woman had a three-week history of weakness, excessive urination, intense thirst, and staggering walk For most of her adult life, she took excessive amounts of vitamin C because she was told it would be beneficial in preventing the common cold But in the past month, she had been taking excessive amounts of vitamin D and calcium each day because she learned she was developing osteoporosis When she took the vitamin D, lab tests revealed that her serum calcium was greatly elevated compared to normal individuals Vitamin D toxicity was the diagnosis She was told to lower her daily intake of calcium and vitamin D and she was given a bisphosphonate for the treatment of her osteoporosis 13 How are the liver and kidney involved in vitamin D metabolism? 14 Why did the excessive vitamin D result in toxicity whereas a similar excess of vitamin C produced no apparent toxicity in this patient? 15 Concisely explain the biochemical basis for the administration of bisphosphonates in the treatment of osteoporosis These question sets are intended to be completed before viewing the High Yield course lectures Video explanations can be found on the Warm-up Questions page within the online High Yield course For further review of the topics covered in this set, refer to the following lectures: Biochemistry: • Molecular Biology I • Molecular Biology II • Medical Genetics • Genetic Diseases • Signal Transduction Systems, Vitamins ... died after an episode of eating a heavy meal containing fava beans The wife remarks that her father died of a disease that was found to be β-thalassemia What type of inheritance pattern would... serum calcium was greatly elevated compared to normal individuals Vitamin D toxicity was the diagnosis She was told to lower her daily intake of calcium and vitamin D and she was given a bisphosphonate... shown by β-thalassemia? What type of disease was indicated by the man’s father and what is its inheritance pattern? If amniocentesis were done and the fetus found to be a male, what would be the
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