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A 14-Year-Old Boy with Chronic Anemia Is Being Evaluated After

Question 22

Multiple Choice

A 14-year-old boy with chronic anemia is being evaluated after experiencing several episodes of chest, back, and extremity pain.  Peripheral blood smear shows sickle-shaped red cells.  Genetic testing reveals that the patient is homozygous for a point mutation in the beta-globin gene, resulting in a glutamic acid to valine substitution at position 6.  Sequencing of the beta-globin gene would most likely reveal which of the following changes? (The genetic code is shown in the figure below.) A 14-year-old boy with chronic anemia is being evaluated after experiencing several episodes of chest, back, and extremity pain.  Peripheral blood smear shows sickle-shaped red cells.  Genetic testing reveals that the patient is homozygous for a point mutation in the beta-globin gene, resulting in a glutamic acid to valine substitution at position 6.  Sequencing of the beta-globin gene would most likely reveal which of the following changes? (The genetic code is shown in the figure below.)    A) CAA → GTT B) CAT → CTT C) TTA → CTA D) GAA → GUA E) GAG → GTG F) GTA → GAA


A) CAA → GTT
B) CAT → CTT
C) TTA → CTA
D) GAA → GUA
E) GAG → GTG
F) GTA → GAA

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