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. Define the 'two-hit hypothesis' for retinoblastoma.
Ch. 11 - Gene Mutation, DNA Repair, and Homologous Recombination

Sanders3rd EditionGenetic Analysis: An Integrated ApproachISBN: 9780135564172Not the one you use?Change textbook
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Sanders 3rd Edition
Ch. 11 - Gene Mutation, DNA Repair, and Homologous Recombination
Problem 3
Sanders 3rd Edition
Ch. 11 - Gene Mutation, DNA Repair, and Homologous Recombination
Problem 3Chapter 11, Problem 3
What is the difference between a transition mutation and a transversion mutation?
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Understand that mutations are changes in the DNA sequence, and they can be classified based on the type of nucleotide change.
Recognize that a transition mutation is a type of point mutation where a purine is replaced with another purine (A ↔ G) or a pyrimidine is replaced with another pyrimidine (C ↔ T).
Identify that a transversion mutation is another type of point mutation where a purine is replaced with a pyrimidine or vice versa (A or G ↔ C or T).
Note that transitions are more common than transversions because they involve less drastic changes in the DNA structure.
Consider the implications of these mutations: transitions may have less impact on the protein function compared to transversions, which can lead to more significant changes in the amino acid sequence.

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Key Concepts
Here are the essential concepts you must grasp in order to answer the question correctly.
Transition Mutation
A transition mutation is a type of point mutation where a purine base (adenine or guanine) is replaced by another purine, or a pyrimidine base (cytosine or thymine) is replaced by another pyrimidine. This type of mutation is more common than transversion mutations and often has less impact on the protein structure, as it maintains the same class of nucleotide.
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Transversion Mutation
A transversion mutation is another type of point mutation, but it involves the substitution of a purine for a pyrimidine or vice versa. This means that adenine or guanine can be replaced by cytosine or thymine, leading to a more significant change in the DNA sequence. Transversions are less frequent than transitions and can have a greater impact on the resulting protein.
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Impact on Protein Function
Both transition and transversion mutations can affect protein function, but their impacts can vary. Transition mutations are often less disruptive due to the preservation of the nucleotide class, while transversions can lead to more drastic changes in amino acid sequences, potentially altering protein structure and function. Understanding these differences is crucial for predicting the effects of mutations in genetic studies.
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Ultraviolet (UV) radiation is mutagenic.
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