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Genetics
Chapter 13 Vocabulary
25
Biology
Undergraduate 3
10/27/2012

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Term
Base substitution
Definition
Mutation in which one nucleotide base pair is replaced by another.
Term
Chromosome mutation
Definition
An inherited large-scale change in chromosome structure or number.
Term
Conditional mutation
Definition
Mutation whose phenotype is expressed only in particular environmental conditions.
Term
Deletion
Definition
Mutation in which one or more base pairs is absent.
Term
Forward mutation
Definition
A mutation that converts a wild type allele into a new allele.
Term
Frameshift mutation
Definition
An addition or deletion of one or two nucleotide base pairs to the coding region of a gene, resulting in the remainder of the coding sequence being read in a new and incorrect reading frame.
Term
Gain-of-function mutation
Definition
A mutation that increases production of a gene product or produces a gene product in cells where it should not be produced, producing a qualitatively new phenotype.
Term
Gene mutation
Definition
An inherited change in the nucleotide sequence of DNA within a single gene; i.e., the conversion of one allele of a gene into a different allele.
Term
Genetic anticipation
Definition
Increase in severity of a genetic disease as it passes from generation to generation, due to expansion of trinucleotide repeats.
Term
Germ line mutation
Definition
A mutation that occurs in a reproductive cell and can be transmitted to the next generation through the gametes.
Term
Induced mutation
Definition
A mutation that results from intentional exposure to a mutagen.
Term
Insertion
Definition
Mutation in which one or more extra nucleotide base pairs is present.
Term
Loss-of-function mutation
Definition
A mutation that reduces or eliminates the function of a gene product.
Term
Missense mutation
Definition
A mutation in the coding sequence of a gene that changes a codon for one amino acid into a codon for a different amino acid.
Term
Mutagen
Definition
Any physical or chemical treatment that increases the rate of mutations.
Term
Mutation
Definition
A stably inherited change in the nucleotide sequence of DNA.
Term
Nonsense mutation
Definition
A mutation in the coding sequence of a gene that changes a codon for an amino acid into a stop codon.
Term
Reverse mutation (reversion)
Definition
A mutation that restores a mutant allele to the wild type.
Term
Somatic mutation
Definition
A mutation that occurs in a cell that is not part of the germ line.
Term
Spontaneous mutation
Definition
A mutation that arises naturally in the absence of intentional exposure to a mutagen.
Term
Suppressor mutation
Definition
A second mutation at a different site that restores the normal phenotype in combination with a first mutation.
Term
Synonymous (silent) mutation
Definition
A mutation in which a codon is changed to another codon that encodes the same amino acid.
Term
Transition
Definition
A mutation in which a purine is replaced with a purine or a pyrimidine is replaced with a pyrimidine.
Term
Transposable element
Definition
A DNA sequence that can move from one position to another within or between DNA molecules.
Term
Transversion
Definition
A mutation in which a purine is replaced with a pyrimidine or a pyrimidine with a purine.
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