Mutations Flashcards
Point/ genetic mutation
gene mutation in which a single base pair in DNA has been changed (substitutions, deletions, insertions, frame shift mutations)
Chromosome mutation
variations in the number and structure of chromosomes (non disjunction, translocation, deletion, inversion)
examples of gene mutations
sickle cell, cystic fibrosis, huntington’s diseaase, PKU
frameshift mutation
mutation that shifts the “reading” frame of the genetic message by inserting or deleting a nucleotide (worst mutation)(point mutation)
Non disjunction
the failure of one or more pairs of homologous chromosomes or sister chromatids to separate normally during nuclear division, usually resulting in an abnormal distribution of chromosomes in the daughter nuclei.
Translocation
Change to a chromosome in which a fragment of one chromosome attaches to a nonhomologous chromosome. (chromosome mutation)
Deletion
removes a chromosomal segment (chromosome mutation or point mutation)
inversion mutation
Mutation in which a chromosome piece reattaches to original chromosome but in reverse orientation(chromosome mutation)
Substitution
A mutation in which a nucleotide or a codon in DNA is replaced with a different nucleotide (point mutation)
Insertion
A mutation involving the addition of one or more nucleotide pairs to a gene.(point mutation)