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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.11c

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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1
Understand that Lynch syndrome is primarily associated with mutations in mismatch repair (MMR) genes, which produce proteins responsible for correcting DNA replication errors.
Visit the website http://www.ncbi.nlm.nih.gov/omim and enter 'Lynch syndrome' in the search box to locate the entry '#120435—Lynch Syndrome.'
Review the gene list associated with Lynch syndrome in the OMIM entry, focusing on key genes such as MLH1, MSH2, MSH6, and PMS2, which encode proteins involved in DNA mismatch repair.
Summarize the normal function of these proteins by explaining that they form complexes that recognize and repair mismatched bases or insertion-deletion loops during DNA replication, maintaining genomic stability.
Highlight that the proper function of these proteins prevents accumulation of mutations, thereby reducing the risk of cancer development, which is compromised in Lynch syndrome due to defective mismatch repair.

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Key Concepts

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

Lynch Syndrome and Its Genetic Basis

Lynch syndrome is an inherited disorder caused by mutations in DNA mismatch repair (MMR) genes. It significantly increases the risk of colorectal and other cancers. Understanding the syndrome requires knowledge of how these gene mutations disrupt normal cellular processes, leading to cancer development.
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Genetic Cloning

DNA Mismatch Repair (MMR) System

The DNA mismatch repair system corrects errors that occur during DNA replication, such as base mismatches and insertion-deletion loops. Key proteins encoded by MMR genes recognize and repair these errors to maintain genomic stability and prevent mutations that could lead to cancer.
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Repair Pathways

Protein Function of MMR Genes in Lynch Syndrome

Proteins produced by MMR genes, such as MLH1, MSH2, MSH6, and PMS2, form complexes that detect and repair DNA mismatches. Their normal function is crucial for preventing accumulation of mutations; loss of function due to mutations impairs repair, increasing cancer risk.
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Related Practice
Textbook Question

What kind of information will be made available by The Cancer Genome Atlas (TCGA)? What sort of role do you think TCGA information will play in cancer diagnosis and cancer treatment in the future?

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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?

454
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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. What genes are most commonly mutated in Lynch syndrome?

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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. What are the approximate rates of cancer that develop in people carrying a mutation of one of these genes?

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Textbook Question

Explain the following processes involving chromosome mutations and cancer development.

How the chromosome mutation producing Burkitt lymphoma generates the disease.

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Textbook Question

Go to the website http://www.cancer.gov and select 'Cancer Types' on the top menu bar. Scroll down to 'Breast Cancer' and click. Select 'Cases & Prevention' from the options. Click 'More information' and select 'BRCA Mutations: Cancer Risk and Genetic Testing'. Use the information on this page to answer the following questions. Are there measures a woman with a positive result can take to lessen her chances of developing cancer or to catch a cancer early in its development?

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