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vomiting, 3. Which of the following inhibits the activity

5. Genomic DNA from a child with pyruvate kinase deficiency identifies a mutation in the 3'-splice site of intron 3. The mRNA from the child's reticulocytes is used to produce cDNA. Primers flanking the exon 3/exon 4 border are used to amplify this region from the cDNA (RT-PCR). The products are separated by electrophoresis and compared to the RT-PCR products from normal reticulocytes (control). The results are shown below. Which of the following mechanisms best accounts for the results of the splice mutation?

Control Patient

84 bp 78 bp

(A) Exon skipping

(B) Frameshift mutation

(C) M issen se mutation

(D) Trinucleotide expansion

(E) Two codon deletion

6. Which of the following citric acid cycle intermediates is required for heme synthesis?






Is o citrate





7. A 22-year-old woman presents with a fusiform swelling of the Achilles tendon, which, when biopsied, shows cholesterol-laden macrophages (foam cells) dispersed among the collagen fibers. She had been troubled widi joint pains for several years. Both her mother and father developed arthritis associated with production of xanthomas, but their first symptoms occurred in middle age. She was referred to a nutritionist and treated with an enzyme inhibitor. Which of die following is most likely elevated in the blood of this woman?

(A) Chylomicron remnants

(B) Chylomicrons

(C) High density lipoproteins (HDL)

(D) Low density lipoproteins (LDL)

(E) Very low density lipoproteins (VLDL)

8. Deficiency of a vitamin that acts as a coenzyme for glutamate carboxylase would most likely present as which of the following syndromes?

(A) Hemolytic anemia in newborns

(C) Megaloblastic anemia

(D) Neural tube defects in newborns

(E) Osteomalacia in adults

9. A 26-year-old pregnant woman complains of persistent, dry, ulcerated skin over her knees and elbows. Examination of her eyes reveals small, gray plaques on the conjunctiva. Which of the following is the most likely diagnosis?

(A) Ascorbic acid deficiency

(B) Excessive a-tocopherol intake

(C) Excessive cholecalciferol intake

(D) Retinol deficiency

(E) Thiamine deficiency

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