Home US English point mutation

Definition of point mutation in English:

point mutation

Pronunciation /point myo͞oˈtāSHən/ /pɔɪnt mjuˈteɪʃən/

noun

Genetics

  • A mutation affecting only one or very few nucleotides in a gene sequence.

    ‘Each mutant allele contains a point mutation, and the positions of the Kitl sequences affected in each are shown in Table 1.’
    • ‘Arrows indicate the position of the point mutation and the corresponding nucleotide on the wild-type sequence (right).’
    • ‘To introduce a point mutation the gene must be cloned, the desired point mutation must be generated within that clone, and an I-SceI site must be inserted.’
    • ‘So tell me how a simple point mutation changes the information content of the gene.’
    • ‘If one of the alleles carries a recessive mutation, such as a point mutation, a second event that creates LOH could be any genetic alteration that inactivates the remaining allele.’