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Ch. 6 - Genetic Analysis and Mapping in Bacteria and Bacteriophages
Sanders - Genetic Analysis: An Integrated Approach 3rd Edition
Sanders3rd EditionGenetic Analysis: An Integrated ApproachISBN: 9780135564172Not the one you use?Change textbook
Chapter 6, Problem A.2a

Go online to the Online Mendelian Inheritance of Man (OMIM) website. Look up the following genetic conditions and answer the questions posed about them.
Look up Tay–Sachs disease (TSD), OMIM number 272800, and give the name and abbreviation of the affected gene and the chromosome location of the gene.

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1
Go to the Online Mendelian Inheritance in Man (OMIM) website at https://omim.org/.
Use the search bar on the OMIM homepage to enter the OMIM number '272800' or the disease name 'Tay–Sachs disease'.
Navigate to the Tay–Sachs disease entry page that appears in the search results.
On the Tay–Sachs disease page, locate the section that lists the gene(s) associated with the condition. Identify the gene name and its standard abbreviation.
Find the chromosome location information for the gene, which is usually provided as a cytogenetic band (e.g., 15q23) or a specific chromosome number and region.

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Key Concepts

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

Online Mendelian Inheritance in Man (OMIM) Database

OMIM is a comprehensive, authoritative online database cataloging human genes and genetic disorders. It provides detailed information about gene functions, mutations, and associated phenotypes, making it an essential tool for genetic research and clinical diagnosis.
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Gene Nomenclature and Abbreviations

Genes are identified by standardized names and abbreviations that reflect their function or discovery history. Understanding gene symbols helps in accurately locating and referencing specific genes, such as HEXA for Tay–Sachs disease, facilitating clear communication in genetics.
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Chromosomal Location of Genes

Each gene resides at a specific position on a chromosome, described by chromosome number and locus. Knowing the chromosomal location, like HEXA on chromosome 15 for Tay–Sachs, is crucial for genetic mapping, diagnosis, and understanding inheritance patterns.
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Related Practice
Textbook Question

Match each statement (a–e) with the best answer from the following list: consultand, 50%, prior probability, 66.7%, obligate carrier, 100%.

The person receiving genetic counseling

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Textbook Question

Match each statement (a–e) with the best answer from the following list: consultand, 50%, prior probability, 66.7%, obligate carrier, 100%.

The probability that the son of a woman with an autosomal recessive condition is a heterozygous carrier

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Textbook Question

A couple comes into your genetic counseling practice with a question about the chance a future child of theirs might have a genetic disease. Three or four men in the woman's family, including her father, had a condition that might be genetic. Although her father is still alive, she has had little contact with him for much of her life and cannot describe or name the condition. Her partner is a healthy man whose family has no history indicating the presence of a genetic condition. To provide more information about this possible genetic condition for the couple, what is the first step you recommend?

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Textbook Question

Go online to the Online Mendelian Inheritance of Man (OMIM) website. Look up the following genetic conditions and answer the questions posed about them.

Go to the 'Population Genetics' section discussing the TSD gene. In a few sentences, summarize the human population in which TSD is most frequently found and give the approximate frequency of heterozygous carriers for the TSD mutation in North American Jews.

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Textbook Question

Go online to the Online Mendelian Inheritance of Man (OMIM) website. Look up the following genetic conditions and answer the questions posed about them.

Look up cystic fibrosis (CF), OMIM 602421, and give the gene name and abbreviation and the chromosome location of the gene.

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Textbook Question

Go online to the Online Mendelian Inheritance of Man (OMIM) website. Look up the following genetic conditions and answer the questions posed about them.

Go to the 'Molecular Genetics' section and describe the most common mutation of the CF gene.

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