Mutations Flashcards
Definition of a mutation
Sudden, permanent change in DNA sequence which is transcripted into the equivalent RNA and can be translated into proteins leading to disease
Type of mutation where a single base in DNA is altered
Point mutation
Type of mutation where one base is replaced by another
Substitution mutation
Type of mutation where a purine is replaced by another purine, or a pyrimidine is replaced by another pyrimidine (e.g. A is replaced by G, or C is replaced by T)
Transition mutation
Type of mutation where a purine base is replaced by a pyrimidine base, or a pyrimidine base is replaced by a purine base (e.g. A is replaced by T)
Transversion mutation
Type of mutation where there is deletion or insertion of a multiple of three codons, so that codons after the mutation are read the same
In frame mutation
Type of mutation where is insertion or deletion of a number of codons that is not divisible by three, so that all the codons after the mutation are changed
Frame shift mutation
Mutation which causes no change to the resulting protein - codes for the same amino acid as the original sequence
Silent mutation
Mutation where a different amino acid is coded for, resulting in some alteration in the protein produced
Missense mutation
Mutation where a stop codon is created prematurely, so that the final protein will be shorter than it should be
Nonsense mutation
Three stop codons found in DNA
TAA
TAG
TGA
Three stop codons found in RNA
UAA
UAG
UGA
Mutation where a large chunk of genetic material is exchanged from one chromosome to another
Translocation
Type of translocation where chunks of genetic material from two different chromosomes are swapped over
Reciprocal translocation
Type of non-reciprocal translocation where a single, large, metacentric chromosome is created from the fused long arms of two acrocentric chromosomes
Robertsonian translocation
