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HHB 1.4 2025
Glossary flashcards
14
Biology
Not Applicable
05/08/2025

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Term
mutation
Definition
changes in the genetic information
Term
single gene mutations
Definition
mutations alter the sequence of DNA nucleotides (S, I, D)
Term
substitution
Definition
single gene mutation: one nucleotide is replaced by another
Term
deletion (of nucleotides)
Definition
single gene mutation: removal of a nucleotide from a sequence
Term
insertion
Definition
single gene mutation: additional nucleotide is placed into a sequence
Term
missense
Definition
substitution mutation; one amino acid is changed for another; may result in non-functional protein or have little effect on protein
Term
nonsense
Definition
substitution mutation: a codon is changed to a stop codon, results in a shorter protein
Term
splice-site mutations
Definition
substitution mutation: introns may be retained and/or exons removed
Term
frame shift mutations
Definition
insertion or deletion mutation in which all the amino acids coded for after the mutation are affected; causes major change in protein structure
Term
chromosome mutations
Definition
mutations that affect the structure of chromosomes (D, D, I, T)
Term
duplication
Definition
chromosome mutation in which a section of a chromosome is added to its homologous chromosome
Term
deletion (of genes)
Definition
chromosome mutation in which a sequence of genes is lost from a chromosome
Term
inversion
Definition
mutation involving the section of a chromosome being reversed
Term
translocation
Definition
chromosome mutation in which part of a chromosome becomes attached to a non-homologous chromosome
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