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

Sanders 3rd Edition

Ch. 2 - Transmission Genetics

Problem 50a

Chapter 2, Problem 50a

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.

Verified step by step guidance

Visit the OMIM website (http://www.ncbi.nlm.nih.gov/omim) and use the search bar to look up the hereditary disease or condition you are interested in.

Identify the specific entry for the disease in the search results and click on it to access detailed information.

Locate the section that describes the gene(s) associated with the disease. Note the name of the gene and its function.

Find the chromosome location of the gene. This information is typically provided in the format 'chromosome number: position' or 'cytogenetic band'.

Summarize your findings, including the name of the gene, its chromosome location, and any relevant details about how the mutation leads to the disease.

Verified video answer for a similar problem:

This video solution was recommended by our tutors as helpful for the problem above.

Video duration:

Was this helpful?

Key Concepts

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

Genetic Mutations

Genetic mutations are alterations in the DNA sequence that can lead to changes in gene function. These mutations can be inherited or occur spontaneously and can result in various hereditary diseases. Understanding the type of mutation (e.g., point mutation, deletion, insertion) is crucial for identifying how it affects the gene and contributes to the disease phenotype.

Chromosomal Location

The chromosomal location of a gene refers to its specific position on a chromosome, which is essential for understanding its role in genetic disorders. Each gene is mapped to a particular locus, and knowing this location helps in studying gene interactions, inheritance patterns, and the impact of mutations on the organism. This information is often represented in a format like 'chromosome number: position'.

Online Mendelian Inheritance in Man (OMIM)

OMIM is a comprehensive, authoritative database that catalogs human genes and genetic disorders. It provides detailed information about the genetic basis of diseases, including gene mutations, chromosomal locations, and clinical features. Utilizing OMIM is crucial for researching specific hereditary conditions, as it offers insights into the genetic mechanisms underlying these diseases.

Recommended video:

Guided course

27:36

Diploid Genetics

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:

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:

Briefly describe the disease.

438

views

Textbook Question

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:

A description of the disease or condition.

415

views

Textbook Question

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

495

views

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?

479

views