Mutation Flashcards
Point mutation (gene mutation)
Silent, nonsense, missense
Silent mutation
Same protein
Nonsense mutation
Stop codon
Missense mutation
Different protein
Frame shift (gene mutation)
Deletion, insertion
Chromosome mutation
Duplication, Translocation, Deletion, Inversion
Genome mutation
Aneuploidy, Polyploidy
Aneuploidy
Presence of an abnormal number of chromosomes in a cell
Polyploidy
Presence of more than two complete sets of chromosomes in a cell‘s nucleus
Effects on the gene / gene product of a mutation
Loss of function, gain of function
Effects on the phenotype
Recessive, dominant, co-dominant, intermediate
Recessive trait
A trait expressed phenotypically only hen two copies of the recessive allele are present
Dominant trait
A trait expressed phenotypically when at least one dopey of the dominant allele is present
Co-dominant trait
Both alleles contribute to the phenotype when present in a heterozygote (neither allele is dominant over the other)
Intermediate dominance
Heterozygous phenotype is intermediate between the two homozygous phenotypes (neither allele is dominant over the other, resulting in a blend of traits)
Nucleotide excision repair system
Excision of multiple nucleotides out of the DNA
