Podcast
Questions and Answers
What are the two basic types of base-pair substitutions that alter amino acids?
What are the two basic types of base-pair substitutions that alter amino acids?
What is the consequence of a nonsense mutation?
What is the consequence of a nonsense mutation?
Which of the following is true about tandem repeats in a normal person?
Which of the following is true about tandem repeats in a normal person?
What happens when tandem repeats increase in number in certain regions of the genome?
What happens when tandem repeats increase in number in certain regions of the genome?
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How many genetic diseases are known to be caused by expanded repeats?
How many genetic diseases are known to be caused by expanded repeats?
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Which type of mutation can alter the downstream codons and result in a frameshift mutation?
Which type of mutation can alter the downstream codons and result in a frameshift mutation?
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What is the consequence of a frameshift mutation?
What is the consequence of a frameshift mutation?
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Which gene is associated with Charcot–Marie–Tooth disease when duplicated?
Which gene is associated with Charcot–Marie–Tooth disease when duplicated?
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Which type of mutation can cause partial deletion or complete deletion of an exon?
Which type of mutation can cause partial deletion or complete deletion of an exon?
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Study Notes
Types of Base-Pair Substitutions
- Two basic types of base-pair substitutions that alter amino acids: transitions and transversions
Consequences of Mutations
- Consequence of a nonsense mutation: premature termination of protein synthesis
Tandem Repeats
- In a normal person, tandem repeats are stable and their number remains consistent
- When tandem repeats increase in number in certain regions of the genome: it can cause disease
- Number of genetic diseases known to be caused by expanded repeats: over 40
Frameshift Mutations
- Type of mutation that can alter downstream codons and result in a frameshift mutation: insertion or deletion of nucleotides
- Consequence of a frameshift mutation: complete change in the amino acid sequence and often leads to a non-functional protein
Gene Associated with Charcot–Marie–Tooth Disease
- Gene associated with Charcot–Marie–Tooth disease when duplicated: peripheral myelin protein 22 (PMP22)
Types of Mutations
- Type of mutation that can cause partial deletion or complete deletion of an exon: exon deletion
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Description
Test your knowledge on point mutations and their impact on genomes with this quiz. Explore the different types of mutations and understand how they contribute to genetic variation.
