point mutation
[/pɔɪnt mjuːˈteɪʃən/]
nounpl: point mutations
mutação pontual
1. A type of genetic mutation where a single nucleotide (DNA building block) is changed, inserted, or deleted in a DNA sequence
A point mutation in the hemoglobin gene can cause sickle cell disease.
Uma mutação pontual no gene da hemoglobina pode causar doença falciforme.
2. The smallest unit of mutation that can be detected at the genetic level, affecting only one base pair in the DNA
Scientists identified a point mutation responsible for the patient's inherited condition.
Os cientistas identificaram uma mutação pontual responsável pela condição hereditária do paciente.
This term is primarily used in scientific and academic contexts in both Brazil and the United States. It is fundamental to modern genetics and molecular biology education, with no colloquial equivalent. The understanding of point mutations has become increasingly important in personalized medicine and genetic counseling in both countries.
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