point mutation(redirected from Base-pair substitution)
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Related to Base-pair substitution: point mutation
1. a permanent transmissible change in the genetic material.
2. an individual exhibiting such a change.
point mutation a mutation resulting from a change in a single base pair in the DNA molecule.
somatic mutation a genetic mutation occurring in a somatic cell, providing the basis for mosaicism.
suppressor mutation the correction of the effect of a mutation at one locus by a mutation at another locus.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
a mutation that involves a single nucleotide; it may consist of loss of a nucleotide, substitution of one nucleotide for another, or the insertion of an additional nucleotide.
Farlex Partner Medical Dictionary © Farlex 2012
A mutation that changes one nucleotide in a gene or DNA sequence by substitution, deletion, or addition.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.
point mu·ta·tion(poynt myū-tā'shŭn)
A mutation that involves a single nucleotide; it may consist of loss of a nucleotide, substitution of one nucleotide for another, or the insertion of an additional nucleotide.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
point mutationThe replacement of one NUCLEOTIDE with another. This need not necessarily cause any change in the protein produced by the affected gene because 18 of the 20 amino acids have more than one coding triplet of base pairs (codon). Glycine, for instance, is coded for by GGA, GGU, GGG and GGC. This redundancy feature of the genetic code arises because the four bases, taken three at a time, allow 64 triplets to code the 20 amino acids and the three stop codons. It is called degeneracy.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005
gene mutationa genetic change affecting a single LOCUS, producing an alternative ALLELE of the gene, but not a gross structural change to the chromosome. The genetic change consists of an altered sequence of DNA bases, which can be of three main types:
- (a) a SUBSTITUTION MUTATION,
- (b) a DELETION MUTATION and
- (c) an INSERTION MUTATION, the latter two often causing a major change to the amino acid sequence of the protein structure. Compare CHROMOSOMAL MUTATION.
Collins Dictionary of Biology, 3rd ed. © W. G. Hale, V. A. Saunders, J. P. Margham 2005