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Types of Genetic Mutations
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Nonsense Mutation
A point mutation that converts a codon encoding an amino acid into a stop codon, leading to premature termination of translation. Often results in nonfunctional protein.
Insertion Mutation
The addition of one or more nucleotide bases into a DNA sequence, which can result in a frameshift mutation if not in multiples of three or can affect protein function if within a gene.
Missense Mutation
A point mutation that results in the change of one amino acid to another in a protein. Can affect the protein function, depending on the importance of the altered amino acid.
Frameshift Mutation
Caused by insertions or deletions of nucleotides that are not in multiples of three, thereby altering the reading frame of the gene. Can result in a completely different amino acid sequence and usually leads to nonfunctional proteins.
Deletion Mutation
The loss of one or more nucleotide bases from a DNA sequence, which can lead to a frameshift mutation if not in multiples of three and can have severe effects if it occurs in an essential region of the gene.
Translocation Mutation
Occurs when a segment of DNA is moved from one chromosome to another, which can create fusion genes, disrupt gene function, or affect gene regulation, potentially leading to diseases like cancer.
Splice Site Mutation
A mutation occurring in the splicing sites of mRNA, potentially causing abnormal mRNA splicing and leading to an altered or truncated protein product.
Point Mutation
A mutation where a single nucleotide base is changed, inserted, or deleted. Potentially alters a single amino acid in a protein or could produce a premature stop codon.
Inversion Mutation
A segment of DNA is reversed within the chromosome. May not directly affect protein function if it does not disrupt a coding sequence, but can have effects on gene expression and regulation.
Duplication Mutation
A segment of DNA is copied one or more times, leading to multiple copies of the DNA segment. Can result in an abnormal protein if it occurs within a gene, potentially contributing to genetic disorders.
Silent Mutation
A point mutation that occurs in the DNA sequence but does not change the amino acid sequence of the encoded protein due to the redundancy of the genetic code.
Copy Number Variation
A type of structural variation where the number of copies of a particular gene varies between individuals in the population. Can increase susceptibility to diseases or affect drug response.
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