D1.3 Mutations and gene editing SL Flashcards
gene mutations
structural changes to genes at the molecular level, resulting from mechanisms like substitutions, insertions, and deletions
base substitution
a type of gene mutation where one nucleotide is replaced by another in the DNA sequence, potentially altering the protein’s structure and function
synonymous substitutions
base substitutions that do not change the amino acid sequence due to the degeneracy of the genetic code. They are often called neutral mutations
non-synonymous substitutions
change the amino acid sequence, which can have various effects on protein function, potentially leading to protein malfunction
insertions in genetic mutations
mutations where one or more nucleotides are added to the DNA sequence, which can cause frameshift mutations and significantly alter the protein’s structure and function
deletions in genetic mutations
one or more nucleotides are removed from the DNA sequence. Like insertions, they can cause frameshift mutations and have a substantial impact on the protein’s structure and function
Mutagens
Agents that cause gene mutations; can be chemical (like mustard gas, nitrous acid) or physical (like UV or ionizing radiation)
Mutation Locations
can occur anywhere in the base sequences of a genome, affecting various functions based on location
Germ Cell vs. Somatic Cell Mutations
Mutations in germ cells can be inherited and contribute to genetic disorders, while mutations in somatic cells affect the individual but are not passed to offspring
Original Source of Genetic Variation
Gene mutations are the primary source of all genetic variation, contributing to diversity within and among species
Consequences of Mutations
altered proteins, potentially causing diseases, or they can be neutral, having no significant effect
Causes of Gene Mutation
Gene mutations can result from errors in DNA replication or repair, or exposure to mutagens like chemicals and radiation
