Podcast
Questions and Answers
What is one potential effect of a substitution mutation?
What is one potential effect of a substitution mutation?
- It adds extra nucleotide bases to the gene.
- It always results in a frameshift mutation.
- It alters a codon but still codes for an amino acid. (correct)
- It prevents the synthesis of a protein entirely.
Which type of mutation results in the insertion of one or more bases into the DNA sequence?
Which type of mutation results in the insertion of one or more bases into the DNA sequence?
- Insertion mutation (correct)
- Frameshift mutation
- Substitution mutation
- Deletion mutation
What type of mutation is responsible for Thalassaemia major?
What type of mutation is responsible for Thalassaemia major?
- Substitution mutation
- Insertion mutation
- Deletion mutation (correct)
- Inversion mutation
Which statement best describes the impact of gene mutations on phenotypes?
Which statement best describes the impact of gene mutations on phenotypes?
What mechanism describes a mutation that shifts the reading frame of the DNA sequence?
What mechanism describes a mutation that shifts the reading frame of the DNA sequence?
Sickle cell anemia is a result of which specific type of mutation?
Sickle cell anemia is a result of which specific type of mutation?
Which of the following mutations can lead to a premature stop codon?
Which of the following mutations can lead to a premature stop codon?
Why is genetic variation important in terms of evolution?
Why is genetic variation important in terms of evolution?
What condition results from the multiplication of a complete set of chromosomes from the same species?
What condition results from the multiplication of a complete set of chromosomes from the same species?
Which mutation refers to the replacement of one pair of nucleotides with another in a DNA molecule?
Which mutation refers to the replacement of one pair of nucleotides with another in a DNA molecule?
If a trisomic plant has 29 chromosomes, how many chromosomes would a triploid plant have?
If a trisomic plant has 29 chromosomes, how many chromosomes would a triploid plant have?
Which mutation results in a change from valine to glutamic acid in the given mRNA sequence?
Which mutation results in a change from valine to glutamic acid in the given mRNA sequence?
What type of mutation involves the rearrangement of the chromosome structure that results in a change of a segment's orientation?
What type of mutation involves the rearrangement of the chromosome structure that results in a change of a segment's orientation?
Which condition indicates the presence of an extra chromosome in a diploid organism?
Which condition indicates the presence of an extra chromosome in a diploid organism?
What type of polyploidy is characterized by multiple sets of chromosomes derived from different species?
What type of polyploidy is characterized by multiple sets of chromosomes derived from different species?
What would the outcome be if the mutation in a DNA sequence changes an amino acid from lysine to glutamic acid?
What would the outcome be if the mutation in a DNA sequence changes an amino acid from lysine to glutamic acid?
Which type of mutation occurs in somatic cells and cannot be inherited?
Which type of mutation occurs in somatic cells and cannot be inherited?
Which type of mutation specifically refers to a change in the sequence of nucleotide bases of a DNA that corresponds to a particular gene?
Which type of mutation specifically refers to a change in the sequence of nucleotide bases of a DNA that corresponds to a particular gene?
What is the result of a frameshift mutation?
What is the result of a frameshift mutation?
Which of the following best describes induced mutations?
Which of the following best describes induced mutations?
Sickle-cell anemia is an example of which type of mutation?
Sickle-cell anemia is an example of which type of mutation?
Thalassaemia major results from which specific type of mutation?
Thalassaemia major results from which specific type of mutation?
Which term describes an organism affected by a mutation?
Which term describes an organism affected by a mutation?
Which type of mutation can be inherited and occurs during the formation of gametes?
Which type of mutation can be inherited and occurs during the formation of gametes?
Flashcards
Gene Mutation Definition
Gene Mutation Definition
A change in the DNA's nucleotide base sequence within a gene.
Substitution Mutation
Substitution Mutation
One base is swapped for another in the DNA sequence.
Sickle Cell Anemia
Sickle Cell Anemia
A disease caused by a substitution mutation in hemoglobin, leading to sickle-shaped red blood cells.
Missense Mutation
Missense Mutation
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Nonsense Mutation
Nonsense Mutation
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Insertion/Addition Mutation
Insertion/Addition Mutation
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Deletion Mutation
Deletion Mutation
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Frameshift Mutation
Frameshift Mutation
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Gene Mutation Types
Gene Mutation Types
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Somatic Mutation
Somatic Mutation
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Germ-cell Mutation
Germ-cell Mutation
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Mutagens
Mutagens
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Trisomy
Trisomy
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Monosomy
Monosomy
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Triploid
Triploid
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Euploidy
Euploidy
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Autopolyploidy
Autopolyploidy
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Inversion Mutation
Inversion Mutation
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Study Notes
Mutation Definition
- Mutation is a change in the amount, arrangement, or structure of DNA in an organism.
- It can result in changes to an organism's phenotype and physiological processes.
- An organism affected by a mutation is called a mutant.
Types of Mutation
Somatic Mutations
- Occur in somatic cells (body cells).
- Not inherited by offspring.
- Examples include cancer of the liver, and non-malignant tumors.
Germ-cell Mutations (Sex Cell Mutations)
- Occur in gametes (reproductive cells).
- Can be inherited by offspring.
- Examples include haemophilia.
Spontaneous Mutations
- Occur randomly due to natural processes.
- Happen during DNA replication.
- Arises from chemical changes in the DNA's nitrogenous bases.
Induced Mutations
- Result from interactions between DNA and mutagens (chemicals or radiation).
- Mutagens are agents that induce mutations, which include:
- Physical mutagens: X-rays, gamma rays, UV-rays
- Chemical mutagens: colchicines, mustard gas, formaldehyde, benzene.
- Certain chemicals in tobacco, pesticides, herbicides.
Gene Mutations (Point Mutations)
- Changes in a single nucleotide base in the DNA sequence.
- Types include:
- Substitution: One base is replaced by another.
- Example: Sickle cell anemia (a change in a single nucleotide resulting in abnormal hemoglobin).
- Results in a different amino acid in the protein, either making sense or nonsense (a premature stop codon).
- Insertion: One or more bases added to the sequence.
- Deletion: One or more bases removed from the sequence.
- Example: Frameshift mutation: shift the reading frame of the DNA, altering the amino acid sequence downstream from the mutation.
- Frameshift mutation: Shift the reading frame of the DNA, altering the amino acid sequence downstream from the mutation, caused by insertions or deletions.
- Substitution: One base is replaced by another.
Chromosomal Mutations
- Changes in the number or structure of chromosomes.
- Types include:
- Aneuploidy: Changes in chromosome number that's not an exact multiple of the haploid set (e.g. Trisomy 21 – Down's Syndrome).
- Euploidy/Polyploidy: Changes in chromosome number that is a multiple of the haploid set (e.g. Autopolyploidy, Aneuploidy).
- Changes in structure (e.g., deletion, inversion, duplication, translocation).
Effects of Mutations
- Can lead to the production of non-functional proteins.
- Can alter the synthesis rate of proteins.
- Can lead to new genetic variations, which is crucial for evolution.
Importance of Mutations
- Source of genetic variations and raw material for evolution.
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