#5: Mutations Flashcards
Mutation
permanent change in DNA sequence
- Heredity
- Acquired (through life)
Substitution Mutations
one nucleotide replaces another nucleotide
- Silent Mutation (Sub)
no change in amino acid coded for
- Missense Mutation (Sub)
a change in the amino acid coded for
- Nonsense Mutation (Sub)
substitution results in a stop codon
Substitution Diseases
Sickle cell anemia (Beta-hemoglobin protein – 147 amino acids)
GAG codon mutated to GUG (valine rather than glutamic acid)
Frameshift Mutations
changes the entire reading frame of mRNA
Deletion (Frameshift)
removal of nucleotide(s)
Insertion (Frameshift)
addition of nucleotide(s)
Frameshift Diseases
Chrohn’s
Insertion of C, with NOD2 gene, at position 3020 results in a premature stop
Causes of Acquired Mutations
mutations may be spontaneous through errors in DNA replication or they may be induced through environmental influences
induced mutations may be caused by such factors as: ultraviolet radiation, X-rays, chemicals
Inversion Mutation
2 adjacent bases trade places
Translocation Mutation
Movement of entire genes/ sequences of DNA chromosomes to another
Mutagen
Environmental agent that directly alters DNA within cell