Point mutation
A single nucleotide base change in the DNA. A point mutation may consist of the loss of a nucleotide, the insertion of an additional nucleotide, or the substitution of one nucleotide for another. The first point mutation discovered in humans involved the substitution of one nucleotide for another. It was in sickle hemoglobin, the molecular basis for sickle cell trait and sickle cell anemia. The mutation results in an amino acid change from glutamic acid to valine, from normal adult hemoglobin (hemoglobin A) to sickle hemoglobin (hemoglobin S).

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point mutation n a gene mutation involving the substitution, addition, or deletion of a single nucleotide base

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a mutation resulting from a change in a single base pair in the DNA molecule, caused by the substitution of one nucleotide for another. See also chromosomal m. and genomic m.

Medical dictionary. 2011.

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  • point mutation — point mutation. См. точковая мутация. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Point mutation — Illustration of three types of point mutations. A point mutation, or single base substitution, is a type of mutation that causes the replacement of a single base nucleotide with another nucleotide of the genetic material, DNA or RNA. Often the… …   Wikipedia

  • point mutation — genų mutacija statusas T sritis augalininkystė apibrėžtis Mutacija, vykstanti geno viduje dėl jo sandaros pakitimo. atitikmenys: angl. gene mutation; point mutation rus. генная мутация; точечная мутация; точковая мутация ryšiai: sinonimas –… …   Žemės ūkio augalų selekcijos ir sėklininkystės terminų žodynas

  • point mutation — noun (genetics) a mutation due to an intramolecular reorganization of a gene • Syn: ↑gene mutation • Topics: ↑genetics, ↑genetic science • Hypernyms: ↑mutation, ↑genetic mut …   Useful english dictionary

  • point mutation — noun Date: 1925 a gene mutation involving the substitution, addition, or deletion of a single nucleotide base …   New Collegiate Dictionary

  • point mutation — Intragenic mutation in which recombination is not impaired …   Dictionary of invertebrate zoology

  • point mutation — A mutation that affects only a single base pair in a specific location …   Dictionary of microbiology

  • point mutation — noun A mutation that involves the replacement, addition or deletion of a small number of bases (especially just one) at a specific site within a gene …   Wiktionary

  • point mutation — noun Genetics a mutation affecting only one nucleotide in a gene sequence …   English new terms dictionary

  • point mutation — Mutationthat causes the replacement of a single base pair with another pair …   Dictionary of molecular biology

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