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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1:53 minutes

Problem A.2d

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.

Verified step by step guidance

Go to the OMIM website (https://omim.org) and enter 'Cystic Fibrosis' or 'CF gene' in the search bar to find the relevant entry for the CFTR gene, which is responsible for cystic fibrosis.

Navigate to the 'Molecular Genetics' section of the CFTR gene entry to find detailed information about mutations associated with cystic fibrosis.

Identify the most common mutation listed in this section. Typically, this is the ΔF508 (also written as p.Phe508del) mutation, which involves the deletion of a specific amino acid in the CFTR protein.

Understand that the ΔF508 mutation results in the loss of phenylalanine at position 508 in the CFTR protein, which affects the protein's folding and function, leading to the symptoms of cystic fibrosis.

Summarize the mutation by describing its type (deletion), its effect on the protein, and why it is the most common mutation causing cystic fibrosis.

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Key Concepts

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

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene

The CFTR gene encodes a protein that functions as a chloride channel in epithelial cells, crucial for maintaining fluid balance in organs like the lungs and pancreas. Mutations in this gene disrupt ion transport, leading to cystic fibrosis symptoms such as thick mucus buildup and respiratory issues.

Common Mutations in the CFTR Gene

The most common mutation in the CFTR gene is the ΔF508 deletion, which removes a phenylalanine at position 508. This mutation causes misfolding of the CFTR protein, preventing it from reaching the cell surface and impairing chloride ion transport, which is central to cystic fibrosis pathology.

Using the OMIM Database for Genetic Research

OMIM is an online resource that catalogs human genes and genetic disorders, providing detailed molecular genetics information. It is used to identify gene mutations, understand their effects, and explore genotype-phenotype relationships, aiding in research and clinical diagnosis.

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Textbook Question

Identify the normal functions of the following genes whose mutations are associated with the development of cancer.

Which of these genes would you classify as a proto-oncogene and which as a tumor suppressor gene? Explain your categorization for each gene.

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Textbook Question

Identify the normal functions of the following genes whose mutations are associated with the development of cancer.

p53(Li–Fraumeni syndrome)

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Textbook Question

Identify the normal functions of the following genes whose mutations are associated with the development of cancer.

RB1(retinoblastoma)

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Textbook Question

How do we know that mutations occur randomly?

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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 '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 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

For the retinal cancer retinoblastoma, the inheritance of one mutated copy of RB1 from one of the parents is often referred to as a mutation that produces a 'dominant predisposition to cancer.' This means that the first mutation does not produce cancer but makes it very likely that cancer will develop.

Explain why cancer is almost certain to develop with the inheritance of one mutated copy of RB1.

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