Essentials of Genetics (9th Edition) - Standalone book
Essentials of Genetics (9th Edition) - Standalone book
9th Edition
ISBN: 9780134047799
Author: William S. Klug, Michael R. Cummings, Charlotte A. Spencer, Michael A. Palladino
Publisher: PEARSON
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Chapter 12, Problem 2CS

CASE STUDY | A drug that sometimes works

A 30-year-old woman with β-thalassemia, a recessively inherited genetic disorder caused by absence of the hemoglobin β chain, had been treated with blood transfusions since the age of 7. However, in spite of the transfusions, her health was declining. As an alternative treatment, her physician administered 5-azacytidine to induce transcription of the fetal β hemoglobin chain to replace her missing β chain. This drug activates gene transcription by removing methyl groups from DNA. Addition of methyl groups silences genes. However, the physician expressed concern that approximately 40 percent of all human genes are normally silenced by methylation. Nevertheless, after several weeks of 5-azacytidine treatment, the patient's condition improved dramatically. Although the treatment was successful, use of this drug raises several important questions.

What genes might raise the greatest concern?

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Essentials of Genetics (9th Edition) - Standalone book

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