Genetic Mutations Flashcards
Genetic Mutations.
What is a mutation, and what is it responsible for?
A mutation is an unintentional change or variation in genetic structure, and it is ultimately responsible for the broad diversity of genes.
How do mutations arise?
Usually either through errors during DNA replication or recombination or the addition of an incorrect nucleotide (Campbell).
What are the two major categories of mutations?
Large-scale mutations and small-scale mutations
What are large-scale mutations, and what do they affect?
Large-scale mutations are chromosomal rearrangements that affect long segments of DNA (Campbell)
What are the two major categories of small-scale mutations?
Single nucleotide-pair substitutions and Nucleotide-pair insertions or deletions
What are the different types of single nucleotide-pair substitutions?
Silent, Missense, and Nonsense Mutations
What is a silent mutation, and what observable effect does it have on phenotypes?
A silent mutation is a change in a nucleotide pair that transforms one codon into another, but due to the redundancy of genetic code, that mutation is translated into the same amino acid (CAmpbell). Therefore, there is no observable effect on the phenotype.
What is a missense mutation?
Missense mutations are a type of single nucleotide-pair substitution that changes the produced amino acid into a different one.
What is a nonsense mutation and what does it lead to?
A nonsense mutation is a point mutation that also changes a codon for an amino acid into a stop codon. It most often leads to nonfunctional proteins.
What are insertions/deletions?
Additions or subtractions of nucleotide pairs in a gene.
What is a frameshift mutation?
Frameshift mutations occur whenever the number of nucleotides inserted or deleted is not a multiple of three, and as a result, nucleotides will be improperly grouped into incorrect codons (Campbell).
What are mutagens?
Mutagens are some sort of agent, either physical or chemical, that cause genetic mutations.
Name the mutation: A mutation changes a TCA codon coding for Ser to TCG, which also codes for Ser
Silent Mutation
Name the mutation: A mutation changes a TCA codon coding for Ser to CCA coding for Pro.
Missense Mutation
Name the mutation: A mutation changes a TCA codon coding for Ser to TAA coding for stop
Nonsense Mutation