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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 49b
Chapter 2, Problem 49b

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:
What gene is mutated in the disease?

Verified step by step guidance
1
Navigate to the OMIM website by entering the URL http://www.ncbi.nlm.nih.gov/omim in your browser.
Locate the Search button at the top of the OMIM homepage and click on it to access the search functionality.
Search for 'Tay–Sachs disease' and select OMIM number 272800 from the search results list. Look through the information provided to identify the gene that is mutated in this disease.
Search for 'cystic fibrosis' and select OMIM number 602421 from the search results list. Examine the details to determine the gene that is mutated in this disease.
Search for 'sickle cell anemia' and select OMIM number 603903 from the search results list. Review the information to find the gene that is mutated in this disease.

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Key Concepts

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

Gene Mutation

A gene mutation refers to a permanent alteration in the DNA sequence that makes up a gene. These mutations can lead to changes in the structure and function of the proteins produced by the gene, which can result in various hereditary diseases. Understanding the specific mutations associated with diseases like Tay-Sachs, cystic fibrosis, and sickle cell anemia is crucial for diagnosing and developing treatments.
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Hereditary Diseases

Hereditary diseases are disorders that are passed down from parents to offspring through genes. These diseases can be caused by mutations in single genes (monogenic disorders) or by complex interactions between multiple genes and environmental factors. Recognizing the genetic basis of these diseases helps in understanding their prevalence in certain populations and the implications for genetic counseling.
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OMIM Database

The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive, authoritative resource that catalogs human genes and genetic disorders. It provides detailed information about the genetic basis of diseases, including the specific genes involved, their mutations, and associated phenotypes. Utilizing OMIM is essential for researchers and clinicians to access up-to-date genetic information relevant to hereditary diseases.
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Related Practice
Textbook Question

A pea plant that has the genotype RrGgwwdd is crossed to a plant that has the rrGgWwDd genotype. The R gene controls round versus wrinkled seed, the G gene controls yellow versus green seed, the W gene controls purple versus white flower, and the D gene controls tall versus short plants. Determine the following;


What proportion of the progeny are expected to have the genotype rrggwwdd?

486
views
Textbook Question

A pea plant that has the genotype RrGgwwdd is crossed to a plant that has the rrGgWwDd genotype. The R gene controls round versus wrinkled seed, the G gene controls yellow versus green seed, the W gene controls purple versus white flower, and the D gene controls tall versus short plants. Determine the following:

What proportion of the progeny are expected to be round, yellow, purple, and tall?

495
views
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:

On which chromosome is the gene for the disease located?

605
views
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.

438
views
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
views
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.

440
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