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Ch. 14 - Analysis of Gene Function via Forward Genetics and Reverse Genetics
Sanders - Genetic Analysis: An Integrated Approach 3rd Edition
Sanders3rd EditionGenetic Analysis: An Integrated ApproachISBN: 9780135564172Not the one you use?Change textbook
Chapter 14, Problem C.12

Genetic counseling has not been discussed in this chapter, but it is a service provided by trained professional counselors who also have detailed knowledge of medical genetics, as described in Application Chapter A. Genetic counselors provide details about gene mutations and have knowledge of most of the details of diseases associated with genetic abnormalities. With regard to genetic testing to identify one's personal risk of cancer, what are the three or four topics you think are most important to be able to discuss with a genetic counselor?

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Step 1: Understand the role of a genetic counselor, who provides information about gene mutations and genetic diseases, helping individuals assess their personal risk based on family and medical history.
Step 2: Identify the importance of discussing family history of cancer, as this helps determine inherited risk factors and whether genetic testing is appropriate.
Step 3: Discuss the types of genetic tests available, including what mutations or gene changes they detect, their accuracy, and limitations.
Step 4: Explore the potential outcomes of genetic testing, such as positive, negative, or uncertain results, and what each means for personal and family health management.
Step 5: Consider the implications of test results on medical decisions, psychological impact, privacy concerns, and possible preventive or therapeutic options.

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Key Concepts

Here are the essential concepts you must grasp in order to answer the question correctly.

Genetic Testing and Mutation Analysis

Genetic testing involves analyzing DNA to identify mutations that may increase the risk of diseases like cancer. Understanding how mutations affect gene function helps assess personal risk and guides decisions about prevention or treatment.
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Inheritance Patterns and Risk Assessment

Knowledge of inheritance patterns (e.g., autosomal dominant, recessive) is essential to estimate the likelihood of passing mutations to offspring. This helps in evaluating family history and personal cancer risk.
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Implications of Test Results and Counseling

Interpreting genetic test results requires understanding their medical, psychological, and ethical implications. Genetic counselors help individuals make informed choices about surveillance, lifestyle changes, and family planning.
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Related Practice
Textbook Question

Go to the website http://www.ncbi.nlm.nih.gov/omim and enter 'Lynch syndrome' in the Search box at the top of the page. From the list of options given, select '#120435—Lynch Syndrome.' Use the information you retrieve to answer the following questions. There are two types of Lynch syndrome. What are they?

Textbook Question

Go to the website http://www.ncbi.nlm.nih.gov/omim and enter 'Lynch syndrome' in the Search box at the top of the page. From the list of options given, select '#120435—Lynch Syndrome.' Use the information you retrieve to answer the following questions. Provide a brief summary of the normal functions of the protein products of these genes.

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Textbook Question

You have identified a recessive mutation that alters bristle patterning in Drosophila and have used recombinant DNA technology to identify a genomic clone that you believe harbors the gene. How would you demonstrate that your gene is on the genomic clone?

Textbook Question

The CBF genes of Arabidopsis are induced by exposure of the plants to low temperature. How would you examine the temporal and spatial patterns of expression after induction by low temperature?

Textbook Question

The CBF genes of Arabidopsis are induced by exposure of the plants to low temperature. Can you design a method that would reveal these changes in gene expression in a way that a farmer could recognize them by observing plants growing in the field?

Textbook Question

When the S. cerevisiae genome was sequenced and surveyed for possible genes, only about 40% of those genes had been previously identified in forward genetic screens. This left about 60% of predicted genes with no known function, leading some to dub the genes fun (function unknown) genes. As an approach to understanding the function of a certain fun gene, you wish to create a loss-of-function allele. How will you accomplish this?