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Ch. 2 - Transmission Genetics
Sanders - Genetic Analysis: An Integrated Approach 3rd Edition
Sanders3rd EditionGenetic Analysis: An Integrated ApproachISBN: 9780135564172Not the one you use?Change textbook
All textbooksSanders 3rd EditionCh. 2 - Transmission GeneticsProblem 50b
Chapter 2, Problem 50b

Select a human hereditary disease or condition you would like to know more about. Using the OMIM website (http://www.ncbi.nlm.nih.gov/omim), search for the disease and prepare a short synopsis of your findings. Include the following information:
A description of the disease or condition.

Verified step by step guidance
1
Visit the OMIM website (http://www.ncbi.nlm.nih.gov/omim) to access the Online Mendelian Inheritance in Man database, which provides detailed information about human hereditary diseases and conditions.
Use the search bar on the OMIM website to enter the name of a hereditary disease or condition you are interested in learning more about (e.g., Cystic Fibrosis, Huntington's Disease, etc.).
Review the search results and select the entry that corresponds to the disease or condition you searched for. This entry will typically include a detailed description, genetic basis, inheritance pattern, and other relevant information.
Read the description section of the OMIM entry to understand the clinical features, symptoms, and characteristics of the disease or condition. Note any specific genetic mutations or chromosomal locations mentioned.
Prepare a synopsis summarizing the key findings, including the description of the disease, its genetic basis, inheritance pattern, and any other notable information provided in the OMIM entry.

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Key Concepts

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

Hereditary Diseases

Hereditary diseases are genetic disorders caused by abnormalities in an individual's DNA, which can be inherited from one or both parents. These conditions can result from mutations in single genes (monogenic disorders), multiple genes (polygenic disorders), or chromosomal abnormalities. Understanding the inheritance patterns, such as autosomal dominant, autosomal recessive, or X-linked, is crucial for predicting the likelihood of disease occurrence in offspring.
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OMIM Database

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative database that catalogs human genes and genetic disorders. It provides detailed information about the genetic basis of diseases, including their clinical features, inheritance patterns, and associated genes. Researchers and healthcare professionals use OMIM to access up-to-date information for diagnosis, research, and education regarding hereditary conditions.
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Disease Synopsis

A disease synopsis is a concise summary that outlines the key aspects of a specific condition, including its definition, symptoms, genetic basis, and potential treatments. This summary serves to inform readers about the essential characteristics of the disease, its impact on individuals, and the current understanding of its pathophysiology. Crafting a clear and informative synopsis is vital for effective communication in medical and academic contexts.
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Related Practice
Textbook Question

Go to the OMIM website (http://www.ncbi.nlm.nih.gov/omim) and locate the Search button at the top of the page. Use the Search function to look up, one by one, the following three human hereditary diseases that are relatively common in certain populations: 'Tay–Sachs disease' (select OMIM number 272800 from the search results list); 'cystic fibrosis' (select OMIM number 602421 from the search results list); and 'sickle cell anemia' (select OMIM 603903 from the search results list). For each of these diseases, look through the information and provide the following details:

Briefly describe the disease.

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Textbook Question

Go to the OMIM website (http://www.ncbi.nlm.nih.gov/omim) and locate the Search button at the top of the page. Use the search function to look up, one by one, the following three human hereditary diseases that are relatively common in certain populations: 'Tay–Sachs disease' (select OMIM number 272800 from the search results list); 'cystic fibrosis' (select OMIM number 602421 from the search results list); and 'sickle cell anemia' (select OMIM 603903 from the search results list). For each of these diseases, look through the information and provide the following details:

In which population(s) does the disease most commonly occur?

438
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Textbook Question

Select a human hereditary disease or condition you would like to know more about. Using the OMIM website (http://www.ncbi.nlm.nih.gov/omim), search for the disease and prepare a short synopsis of your findings. Include the following information:

The gene mutated in the disease and its chromosome location.

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Textbook Question

Select a human hereditary disease or condition you would like to know more about. Using the OMIM website (http://www.ncbi.nlm.nih.gov/omim), search for the disease and prepare a short synopsis of your findings. Include the following information:

Any available information about the population(s) in which the disease is most common.

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Textbook Question

For a number of human hereditary conditions, genetic testing is available to identify heterozygous carriers. Some heterozygous carrier testing programs are community-based, often as part of an organized effort targeting specific populations in which a disease and carriers of a disease are relatively frequent. For example, carrier genetic testing programs for Tay–Sachs disease target Ashkenazi Jewish populations and sickle cell disease carrier testing programs target African American populations. The testing is usually free or available at minimal cost, the wait time for results is short, and the results are confidential and unavailable to third parties such as insurance companies. Neither the Tay–Sachs nor the sickle cell allele produces serious consequences for heterozygous carriers.

From a genetic perspective, what is the value of the information obtained by genetic testing of the type described?

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Textbook Question

For a number of human hereditary conditions, genetic testing is available to identify heterozygous carriers. Some heterozygous carrier testing programs are community-based, often as part of an organized effort targeting specific populations in which a disease and carriers of a disease are relatively frequent. For example, carrier genetic testing programs for Tay–Sachs disease target Ashkenazi Jewish populations and sickle cell disease carrier testing programs target African American populations. The testing is usually free or available at minimal cost, the wait time for results is short, and the results are confidential and unavailable to third parties such as insurance companies. Neither the Tay–Sachs nor the sickle cell allele produces serious consequences for heterozygous carriers.

In a broader sense, what is the value of a community-based effort targeting specific populations for selected diseases?

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