Podcast
Questions and Answers
What is a gene mutation?
What is a gene mutation?
- An insertion of viral DNA into a host cell
- A permanent deletion of a segment of DNA
- A change in the sequence of base pairs in DNA (correct)
- A spontaneous replication of DNA
Which of the following correctly describes mutagens?
Which of the following correctly describes mutagens?
- Substances that increase the likelihood of a mutation occurring (correct)
- Proteins that form polypeptides
- Chemical compounds that help in DNA replication
- Natural enzymes that repair DNA
How can deaminating chemicals affect DNA?
How can deaminating chemicals affect DNA?
- By repairing DNA strands
- By preventing mutations from occurring
- By increasing replication speed
- By changing the chemical structure of bases (correct)
What is the typical consequence of the majority of mutations?
What is the typical consequence of the majority of mutations?
Which of the following is NOT a method through which mutations can occur?
Which of the following is NOT a method through which mutations can occur?
What is the primary effect of the deletion mutation responsible for cystic fibrosis?
What is the primary effect of the deletion mutation responsible for cystic fibrosis?
Which of the following accurately describes a neutral mutation?
Which of the following accurately describes a neutral mutation?
Which gene is associated with the ability to taste bitter chemicals found in Brussels sprouts?
Which gene is associated with the ability to taste bitter chemicals found in Brussels sprouts?
How do silent mutations affect the amino acid sequence of a protein?
How do silent mutations affect the amino acid sequence of a protein?
In what way might the ability to taste bitter substances have been advantageous in the past?
In what way might the ability to taste bitter substances have been advantageous in the past?
What is the consequence of the triplet codon sequences in genetic coding?
What is the consequence of the triplet codon sequences in genetic coding?
What type of mutation results in a change that does not affect the protein's structure or function?
What type of mutation results in a change that does not affect the protein's structure or function?
Which statement best describes a deleterious mutation?
Which statement best describes a deleterious mutation?
What is a frameshift mutation?
What is a frameshift mutation?
Which type of mutation alters only one amino acid without a downstream effect?
Which type of mutation alters only one amino acid without a downstream effect?
Which of the following is an example of a beneficial mutation in humans?
Which of the following is an example of a beneficial mutation in humans?
What effect does an insertion mutation typically have on protein synthesis?
What effect does an insertion mutation typically have on protein synthesis?
What type of mutation may create a premature stop codon?
What type of mutation may create a premature stop codon?
Which of the following correctly categorizes mutations based on their effects on organisms?
Which of the following correctly categorizes mutations based on their effects on organisms?
What is the effect of deletion mutations on the amino acid sequence?
What is the effect of deletion mutations on the amino acid sequence?
Why are some mutations considered neutral?
Why are some mutations considered neutral?
Which of the following is true about substitution mutations?
Which of the following is true about substitution mutations?
What might occur if the shape of an enzyme's active site changes due to a mutation?
What might occur if the shape of an enzyme's active site changes due to a mutation?
Which of the following mutations is likely to have a significant evolutionary advantage?
Which of the following mutations is likely to have a significant evolutionary advantage?
Which mutation leads to an amino acid change without affecting the downstream sequence?
Which mutation leads to an amino acid change without affecting the downstream sequence?
How can harmful mutations impact protein function?
How can harmful mutations impact protein function?
In which scenario is an insertion mutation particularly detrimental?
In which scenario is an insertion mutation particularly detrimental?
Which illness is an example of a disease caused by a harmful mutation?
Which illness is an example of a disease caused by a harmful mutation?
Flashcards
Gene Mutation
Gene Mutation
A permanent change in the DNA sequence of a gene, potentially leading to an altered protein.
Mutagens
Mutagens
Factors that increase the probability of a mutation occurring during DNA replication.
Ionising Radiation as a Mutagen
Ionising Radiation as a Mutagen
Ionising radiation, such as X-rays, can break DNA strands, leading to altered DNA sequences during repair.
Deaminating Chemicals as Mutagens
Deaminating Chemicals as Mutagens
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Degeneracy of the Genetic Code
Degeneracy of the Genetic Code
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Neutral Mutation
Neutral Mutation
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Silent Mutation
Silent Mutation
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Deletion Mutation
Deletion Mutation
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Cystic Fibrosis
Cystic Fibrosis
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Substitution Mutation
Substitution Mutation
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Ability to Taste Brussels Sprouts
Ability to Taste Brussels Sprouts
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Hemophilia
Hemophilia
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Sickle Cell Anemia
Sickle Cell Anemia
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Insertion Mutation
Insertion Mutation
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Missense Mutation
Missense Mutation
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Nonsense mutation
Nonsense mutation
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Beneficial Mutation
Beneficial Mutation
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Harmful Mutation
Harmful Mutation
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Frameshift Insertion
Frameshift Insertion
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Frameshift Deletion
Frameshift Deletion
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Translation
Translation
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Codon
Codon
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Mutation's Effect on Polypeptide
Mutation's Effect on Polypeptide
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Study Notes
Gene Mutations
- Gene mutations are changes in DNA base pairs, potentially altering polypeptides.
- Mutations occur continuously, spontaneously during replication, or with mutagens.
- Mutagens increase mutation probability, including ionizing radiation (e.g., X-rays) that break DNA strands, deaminating chemicals altering base structures, and chemicals adding methyl/ethyl groups.
- Viruses can insert viral DNA into host cells' DNA.
Types of Mutations and Effects
- Many mutations are neutral (no significant change) due to:
- The genetic code's degeneracy (multiple codons code for the same amino acid).
- Mutations in non-coding DNA
- Mutations can be:
- Inserts: Addition of nucleotides creates new triplets further down the sequence, leading to frameshift mutations and often significant changes in the amino acid sequence.
- Deletions: Removal of nucleotides similarly shifts the reading frame, affecting amino acid sequencing.
- Substitutions: Swapping one base for another, either:
- Silent: No change in amino acid sequence due to degeneracy of the genetic code
- Missense: Changes a single amino acid, e.g., sickle cell anemia.
- Nonsense: Creates a premature stop codon, resulting in an incomplete polypeptide – e.g., cystic fibrosis.
Categorizing Mutations Based on Effect
- Mutations can be:
- Beneficial: Some mutations lead to altered polypeptides with beneficial effects, e.g., pale skin evolution (increased vitamin D synthesis in lower sunlight environments).
- Harmful: Mutations impacting polypeptides causing harmful traits, often linked to genetic diseases e.g., cystic fibrosis, or haemophilia.
- Neutral: Mutations that have no selective advantage or disadvantage, either:
- No change in polypeptide sequence
- Slight change in polypeptide structure/function without impacting the organism significantly e.g., ability to taste certain chemicals.
Silent Mutations Example
- Silent mutations occur when a nucleotide change doesn't alter the amino acid sequence (due to degeneracy)
- Often involve changing the 2nd or 3rd base of a codon, not the first.
- For example, valine is coded by four different codons (GUU, GUC, GUA, GUG). Any change to the third base will still produce valine.
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