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Ch. 15 - Gene Mutation, DNA Repair, and Transposition
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All textbooksKlug 12th EditionCh. 15 - Gene Mutation, DNA Repair, and TranspositionProblem 17

Chapter 15, Problem 17

In 2013 the actress Angelina Jolie elected to have prophylactic double-mastectomy surgery to prevent breast cancer based on a positive test for mutation of the BRCA1 gene. What are some potential positive and negative consequences of this high-profile example of acting on the results of a genetic test?

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Hello everyone here We have a question asking us what options are available to a woman. If a braca one gene mutation test results in a positive result. If the braca one gene is found to have been altered, the person is more likely to get breast and ovarian cancer. So women who receive a positive braca one gene mutation test have a number of options. So let's look at our options here. A regular screening of breast cancer. Women with a positive braca one gene mutation should receive routine breast cancer screening. So A. Is correct B prevention with chemotherapy. This is called chemo prevention and it is an approach that uses medication to lower the risk of breast cancer. So this is an option see prophylactic mastectomy. Women who have the braca one gene mutation may like to have both breasts removed as part of a preventive mastectomy to lower their risk of breast cancer. So C. Is correct. So our answer here is deep. All of the above. Thank you for watching. Bye.
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Textbook Question

A significant number of mutations in the HBB gene that cause human β-thalassemia occur within introns or in upstream noncoding sequences. Explain why mutations in these regions often lead to severe disease, although they may not directly alter the coding regions of the gene.

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Dominant mutations can be categorized according to whether they increase or decrease the overall activity of a gene or gene product. Although a loss-of-function mutation (a mutation that inactivates the gene product) is usually recessive, for some genes, one dose of the normal gene product, encoded by the normal allele, is not sufficient to produce a normal phenotype. In this case, a loss-of-function mutation in the gene will be dominant, and the gene is said to be haploinsufficient. A second category of dominant mutation is the gain-of-function mutation, which results in a new activity or increased activity or expression of a gene or gene product. The gene therapy technique currently being used in clinical trials involves the 'addition' to somatic cells of a normal copy of a gene. In other words, a normal copy of the gene is inserted into the genome of the mutant somatic cell, but the mutated copy of the gene is not removed or replaced. Will this strategy work for either of the two aforementioned types of dominant mutations?

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