Permanent genetic change in a somatic cell. These mutations affect the individual only; they are not passed on to offspring.
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Define Germ Line Mutations
Mutations in a cell that produces gametes.
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Define a Silent Mutation
A change in a gene's sequence that has no effect on the amino acid sequence of a protein because it occurs in noncoding DNA or because it does not change the amino acid specified by the corresponding codon.
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Define a loss-of-function mutation
A mutation that results in the loss of a functional protein.
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Define a gain-of-function mutation
A mutation that results in a protein with a new function.
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Define a conditional mutation
A mutation that results in a characteristic phenotype only under certain environmental conditions.
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Define a point mutation
A mutation that results from the gain, loss, or substitution of a single nucleotide.
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Define a missense mutation
A change in a gene's sequence that results in a change in the sequence of the amino acid specified by the corresponding codon.
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Define a nonsense mutation
Change in a gene's sequence that prematurely terminates translation by changing one of its codons to a stop codon.
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Define a frame-shift mutation
The addition or deletion of a single or two adjacent nucleotides in a gene's sequence. Results in the misreading of mRNA during translation and the production of a nonfunctional protein.
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Define a chromosomal mutation
Loss of or changes in position/direction of a DNA segment on a chromosome.
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Define deletion
A mutation resulting from the loss of a continuous segment of a gene or chromosome. Such mutations almost never revert to wild type.
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Define duplication
A mutation in which a segment of a chromosome is duplicated, often by the attachment of a segment lost from its homolog.
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Define inversion
A rare 180 degree reversal of the order of genes within a segment of a chromosome.
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Define translocation
In genetics, a rare mutational event that moves a portion of a chromosome to a new location, generally on a nonhomologous chromosome.
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Define spontaneous mutation
A genetic change caused by internal cellular mechanisms, such as an error in DNA replication.
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Define mutagen
Any agent that increases the mutation rate.
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Define a restriction enzyme
Any of a type of enzyme that cleaves double-stranded DNA at specific sites; extensively used in recombinant DNA technology. Also called a restriction endonuclease.
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Define a restriction site
A specific DNA base sequence that is recognized and acted on by a restriction endonuclease.
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Define elecrophoresis
A technique for separating molecules (such as fragments) from one another on the basis of their electric charges and molecular weights by applying an electric field to a gel.
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Define Single Nucleotide Polymorphisms (SNP)
A complex of an enzyme and a small nuclear RNA molecule, functioning in RNA splicing.
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Define Short Tandem Repeats (STR)
A short (1-5 base pairs_, moderately repetitive sequence of DNA. The number of copies of an STR at a particular location varies between individuals and is inherited.
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