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

6. Chromosomal Variation

Chromosomal Rearrangements: Deletions

Genetics

6. Chromosomal Variation

Chromosomal Rearrangements: Deletions

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1:29 minutes

Problem 7b

Textbook Question

From the following list, identify the types of chromosome changes you expect to show phenotypic consequences.
Interstitial deletion

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Understand the concept of an interstitial deletion: This type of chromosomal change involves the loss of a segment of DNA from within the chromosome, rather than at the ends. It can result in the removal of one or more genes, potentially leading to phenotypic consequences.

Review the impact of gene dosage: The deletion of genes can lead to haploinsufficiency, where a single copy of a gene is not sufficient to maintain normal function. This can result in observable phenotypic changes.

Consider the location of the deletion: If the deleted region contains essential genes or regulatory elements, the phenotypic consequences are likely to be more severe. For example, loss of genes involved in development or metabolism can have significant effects.

Examine the size of the deletion: Larger deletions are more likely to remove multiple genes, increasing the likelihood of phenotypic consequences. Smaller deletions may have less impact, depending on the specific genes affected.

Analyze potential genetic imbalance: Interstitial deletions can disrupt the balance of gene expression, leading to dominant or recessive effects depending on the nature of the genes involved. This imbalance can manifest as phenotypic changes.

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Key Concepts

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

Chromosome Structure

Chromosomes are structures within cells that contain DNA and proteins. They are essential for the proper segregation of genetic material during cell division. Changes in chromosome structure, such as deletions, duplications, or inversions, can lead to alterations in gene expression and function, potentially resulting in phenotypic consequences.

Interstitial Deletion

An interstitial deletion is a type of chromosomal alteration where a segment of the chromosome is lost from the middle, leaving the ends intact. This can result in the loss of one or more genes, which may disrupt normal biological functions and lead to various phenotypic effects, depending on the genes involved and their roles in the organism.

Phenotypic Consequences

Phenotypic consequences refer to the observable traits or characteristics of an organism that result from the expression of its genes. Changes in chromosome structure, such as interstitial deletions, can lead to alterations in gene dosage or function, which may manifest as physical, biochemical, or behavioral changes in the organism, impacting its overall phenotype.

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Related Practice

Multiple Choice

An intragenic deletion is a deletion found where?

Deletions can cause what type of phenotype?

Which of the following genetic diseases is an example of a chromosomal deletion?

Human late prophase karyotypes have about 2000 visible G bands. The human genome contains approximately 22,000 genes. Consider the region 5p1.5 through the end of the short arm of chromosome 5, which is identified on the late prophase chromosome in Figure 10.5, and assume the entire region is deleted. Approximately how many genes will be lost as a result of the deletion?

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Textbook Question

From the following list, identify the types of chromosome changes you expect to show phenotypic consequences.

Terminal deletion

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Textbook Question

The mutations called bobbed in Drosophila result from variable reductions (deletions) in the number of amplified genes coding for rRNA. Researchers trying to maintain bobbed stocks have often documented their tendency to revert to wild type in successive generations. Propose a mechanism based on meiotic recombination which could account for this reversion phenomenon. Why would wild-type flies become more prevalent in Drosophila cultures?

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Textbook Question

A healthy couple with a history of three previous spontaneous abortions has just had a child with cri-du-chat syndrome, a disorder caused by a terminal deletion of chromosome 5. Their physician orders karyotype analysis of both parents and of the child. The karyotype results for chromosomes 5 and 12 are shown here. Do the karyotypes of the parents help explain the occurrence of the three previous spontaneous abortions? Explain.

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Textbook Question

A healthy couple with a history of three previous spontaneous abortions has just had a child with cri-du-chat syndrome, a disorder caused by a terminal deletion of chromosome 5. Their physician orders karyotype analysis of both parents and of the child. The karyotype results for chromosomes 5 and 12 are shown here. What is the approximate probability that the next child of this couple will have cri-du-chat syndrome?

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From the following list, identify the types of chromosome changes you expect to show phenotypic consequences.Interstitial deletion

Key Concepts

Chromosome Structure

Interstitial Deletion

Phenotypic Consequences

Watch next

From the following list, identify the types of chromosome changes you expect to show phenotypic consequences.
Interstitial deletion