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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1:27 minutes

Problem A.2c

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.

Verified step by step guidance

Go to the OMIM website at https://omim.org/ to access the Online Mendelian Inheritance in Man database.

In the search bar, enter the OMIM number '602421' or the term 'cystic fibrosis' to find the specific entry for cystic fibrosis.

Once on the cystic fibrosis page, locate the section that lists the gene associated with the condition. This will include the gene name and its standard abbreviation.

Find the chromosome location information, which is usually given as the chromosome number and the specific band or region where the gene is located.

Record the gene name, abbreviation, and chromosome location as your answer to the question.

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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 catalog of human genes and genetic disorders. It provides detailed information about gene functions, mutations, and associated phenotypes, making it a vital resource for genetic research and clinical reference.

Gene Nomenclature and Abbreviations

Genes are identified by standardized names and abbreviations to ensure clear communication. For example, the cystic fibrosis gene is known as CFTR, which stands for Cystic Fibrosis Transmembrane Conductance Regulator, facilitating consistent referencing across studies.

Chromosomal Location of Genes

Each gene is located on a specific chromosome at a defined position, which is crucial for understanding inheritance patterns and genetic mapping. The chromosomal location helps link genes to diseases and guides genetic testing and research.

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Related Practice

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.

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.

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.

415

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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.

463

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Textbook Question

When working on barley plants, two researchers independently identify a short-plant mutation and develop homozygous recessive lines of short plants. Careful measurements of the height of mutant short plants versus normal tall plants indicate that the two mutant lines have the same height. How would you determine if these two mutant lines carry mutation of the same gene or of different genes?

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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.

Key Concepts

Online Mendelian Inheritance in Man (OMIM) Database

Gene Nomenclature and Abbreviations

Chromosomal Location of Genes

Watch next

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.