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Mutation
Heritable change in genetic material.
Allelic Variation
Differences in gene variants within a population.
Positive Mutation Effects
Foundation for evolutionary adaptation.
Negative Mutation Effects
Often harmful and disease-causing.
DNA Repair
Mechanisms to fix damaged DNA.
Chromosome Structure Mutation
Alterations in chromosome arrangement.
Chromosome Number Mutation
Changes in the total number of chromosomes.
Gene Mutation
Molecular changes in a gene's DNA sequence.
Point Mutation
Change in a single base pair.
Base Substitution
Replacement of one nucleotide with another.
Transition Mutation
Pyrimidine to pyrimidine or purine to purine change.
Transversion Mutation
Pyrimidine to purine or vice versa change.
Silent Mutation
No change in amino acid sequence.
Missense Mutation
Amino acid change occurs in polypeptide.
Nonsense Mutation
Normal codon changed to a stop codon.
Frameshift Mutation
Addition/deletion not divisible by three shifts reading frame.
Germ-Line Cells
Cells that produce gametes (eggs, sperm).
Somatic Cells
All body cells excluding germ-line cells.
Germ-Line Mutation
Mutation in gametes, passed to offspring.
Somatic Mutation
Mutation in body cells, not inherited.
Genetic Mosaic
Individual with genetically different cells.
DNA Repair Systems
Multiple mechanisms to correct DNA damage.
Photolyase
Enzyme that repairs thymine dimers using light.
Alkyltransferase
Repairs alkylated bases by transferring groups.
Base Excision Repair (BER)
Removes damaged bases using DNA N-glycosylases.
Nucleotide Excision Repair (NER)
Repairs various DNA damages, including thymine dimers.
Uvr Proteins
Key proteins in E. coli NER system.
Core Promoter Mutation
Affects transcription levels of a gene.
Regulatory Element Mutation
Disrupts gene regulation mechanisms.
Note 
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