Table of contents

1. Introduction to Genetics51m
2. Mendel's Laws of Inheritance3h 37m
3. Extensions to Mendelian Inheritance2h 41m
4. Genetic Mapping and Linkage2h 28m
5. Genetics of Bacteria and Viruses1h 21m
6. Chromosomal Variation1h 48m
7. DNA and Chromosome Structure56m
8. DNA Replication1h 10m
9. Mitosis and Meiosis1h 34m
10. Transcription1h 0m
11. Translation58m
12. Gene Regulation in Prokaryotes1h 19m
13. Gene Regulation in Eukaryotes44m
14. Genetic Control of Development44m
15. Genomes and Genomics1h 50m
16. Transposable Elements47m
17. Mutation, Repair, and Recombination1h 6m
18. Molecular Genetic Tools19m
- Genetic Cloning
  9m
- Methods for Analyzing DNA
  9m
19. Cancer Genetics29m
- Overview of Cancer
  21m
- Cancer Mutations
  7m
20. Quantitative Genetics1h 26m
21. Population Genetics50m
- Hardy Weinberg
  19m
- Allelic Frequency Changes
  31m
22. Evolutionary Genetics29m

17. Mutation, Repair, and Recombination

Types of Mutations

Genetics

17. Mutation, Repair, and Recombination

Types of Mutations

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1:48 minutes

Problem A.2b

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.

Verified step by step guidance

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.

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.

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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