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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
Chapter 2, Problem 49c

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.

Verified step by step guidance
1
Step 1: Navigate to the OMIM website by entering the URL 'http://www.ncbi.nlm.nih.gov/omim' into your browser.
Step 2: Locate the Search button at the top of the OMIM homepage and click on it.
Step 3: Use the Search function to look up 'Tay–Sachs disease' and select OMIM number 272800 from the search results list. Review the information provided to find a brief description of the disease.
Step 4: Repeat the search process for 'cystic fibrosis' and select OMIM number 602421 from the search results list. Again, review the information to find a brief description of the disease.
Step 5: Perform the search for 'sickle cell anemia' and select OMIM number 603903 from the search results list. Look through the information to locate a brief description of the disease.

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Key Concepts

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

Genetic Disorders

Genetic disorders are diseases caused by abnormalities in an individual's DNA, which can result from mutations, chromosomal abnormalities, or inherited traits. These disorders can be classified as single-gene disorders, multifactorial disorders, or chromosomal disorders. Understanding the genetic basis of these diseases is crucial for diagnosis, treatment, and genetic counseling.
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Autosomal Recessive Inheritance

Autosomal recessive inheritance is a pattern of inheritance where two copies of an abnormal gene must be present for the disease or trait to develop. This means that an individual must inherit one mutated gene from each parent to express the disorder. Tay-Sachs disease and cystic fibrosis are examples of conditions that follow this inheritance pattern, highlighting the importance of carrier screening in affected populations.
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Population Genetics

Population genetics is the study of genetic variation within populations and involves the examination of allele frequency distributions and changes over time. Certain hereditary diseases, like sickle cell anemia, are more prevalent in specific populations due to historical factors such as natural selection and genetic drift. Understanding these concepts helps explain the distribution of genetic disorders across different ethnic groups.
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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 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:

What gene is mutated in the disease?

677
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
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:

A description of the disease or condition.

415
views