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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
All textbooksSanders 3rd EditionCh. 6 - Genetic Analysis and Mapping in Bacteria and BacteriophagesProblem A.2b
Chapter 6, Problem A.2b

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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1
Understand that the problem requires you to research the TSD gene (associated with Tay-Sachs Disease) on the OMIM website, focusing on the 'Population Genetics' section.
Navigate to the OMIM website (https://omim.org) and use the search function to find the entry for the TSD gene or Tay-Sachs Disease.
Locate the 'Population Genetics' section within the TSD gene entry, which provides information about the distribution of the mutation in different human populations.
Identify the specific human population where the TSD mutation is most frequently found, typically Ashkenazi Jews, and note the approximate frequency of heterozygous carriers in North American Jews.
Summarize your findings in a few sentences, clearly stating the population group and the carrier frequency, ensuring you understand the concept of heterozygous carriers as individuals carrying one copy of the mutated gene without showing disease symptoms.

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Key Concepts

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

Tay-Sachs Disease (TSD) and Its Genetic Basis

Tay-Sachs Disease is a genetic disorder caused by mutations in the HEXA gene, leading to a deficiency of the enzyme hexosaminidase A. This results in the accumulation of harmful substances in nerve cells, causing progressive neurological damage. Understanding the genetic mutation and its effects is essential to grasp the disease's inheritance and population distribution.
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Population Genetics and Carrier Frequency

Population genetics studies the distribution and changes of gene variants in populations. Carrier frequency refers to the proportion of individuals who carry one copy of a recessive mutation without showing symptoms. Knowing carrier frequencies helps identify populations at higher risk for genetic diseases like TSD.
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Founder Effect and Genetic Drift in Specific Populations

The founder effect occurs when a small group with limited genetic variation establishes a population, leading to higher frequencies of certain mutations. In North American Ashkenazi Jews, the TSD mutation is more common due to this effect, resulting in a higher carrier frequency compared to the general population.
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Related Practice
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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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.

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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Textbook Question

Conjugation between an Hfr cell and an F⁻ cell does not usually result in conversion of exconjugants to the donor state. Occasionally, however, the result of this conjugation is two Hfr cells. Explain how this occurs.

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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
Bacteria transfer genes by conjugation, transduction, and transformation. Compare and contrast these mechanisms. In your answer, identify which if any processes involve homologous recombination and which if any do not.
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