| Term | Definition |
|---|
| Mutations | changes in nucleotide sequence, usually spontaneous due to mistakes in replication, recombination, endogenous DNA damage, or induced |
| Germ-line mutations | In gametes, inherited mutations |
| Somatic Mutations | not inherited, affected person is a mosaic of, |
| Conditional | mutation expressed in certain conditions only (siamese cat) |
| Unconditional | mutations always expressed, more common |
| loss of function | Complete gene inactivation, no functional gene |
| hypomorphic | reduction in gene expression, usually in recessive alleles |
| hypermorphic | an increase in the level of gene expression |
| leaky | enough of gene expression to function normally |
| Gain of function | new gene function |
| Large Scale mutation | changes in chromosome number |
| Small Scale Mutation | less than 1000 bp, only small nucleotide region |
| Silent | no change in amino acid sequence |
| Missense | different amino acid encoded |
| Nonsense | a stop codon encoded |
| Frameshift | deletion or insertion of 1 or 2 codons |
| DNA Polymerase | needs to accurately replicate, but 1/100,000 = 6,000 mistakes, profread to 600 mistakes |
| Replication slipage | occurs at repetitive sequences when a new strand mispairs with a template strand |
| Deamination | Loss of A, C, G |
| Depurination | Loss of a purine base, such as by water damage to DNA |
| Mutagens | increase the mutation rate, each is unique, such as UV radiation, or ionizing radation |
Combine with other sets
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