Unit 4 - Ch 13 - Mutations Flashcards
Mutations
Change in the DNA nucleotide sequence
- occur randomly
- usually harmful
- analogous to misspelling words
- are permanent if not lethal to the cell (cell cycle/replication)
Point mutation
AKA base-pair substitution, involves a change in only one pair of nucleotides. Types: Missense Nonsense Silent
Missense mutations
Replacement of one amino acid for another.
=> cystic fibrosis, sickle c ell anemia
Nonsense mutations
Base-pair substitutions that convert an amino acid-specifying codon to a stop codon.
- usually problematic
Silent mutations
Base-pair substitutions that have no discernible effect. The mutation does not alter the amino acid sequence.
Frameshift mutation
Insert or delete one or more nucleotides of DNA to shift the codon sequence. Results in a bulge in the DNA
- usually serious problems resulting
Somatic mutations
Occur in the non-reproductive tissues (somates)
- not transmitted to offspring
Germ mutations
Occur in the reproductive tissues (ovaries and testes)
- may be transmitted to offspring (meiosis)
Spontaneous mutation rate
Occurs anywhere from 1/1,000 to 1/1,000,000 cells
- humans average 3,000 mutations
Mutagens
increase spontaneous mutation rate (10x to 1000x)
=> radiation (gamma, x-ray, UV), chemical compounds (benzpyrene)