MUTATIONS OF CHROMOSOMES
Mutation: Change in genetic material Chromosome mutation: move genes to other parts of a chromosome
Rearrangements
Deletion: part of chromosome breaks off, lost Duplication: 2 copies of same section on a chromosome (sometimes piece break off one chrom + attach to homo partner = deletion + duplication) Inversion: part of chrom break off -> reattach in opposite direction = reverse gene order Translocation: piece moved from one chromosome -> non-homo chromosome
MUTATIONS OF GENES
Mutagens: increase rate of mutation -> High-energy radiation Eg. Gamma rays, X-rays, UV rays -> Chemical radiation Eg. hydrocarbons in cigar smoke, heterocyclic amine in overcooked meat -> Base Substitution Possible causes: - chemical similarity of some bases => insert wrong base in DNA strand - chemical change -> convert one base to another Effect: - may cause wrong amino acid to be inserted into protein -> effect of changed amino acid depends on: position in + function of, protein produced - may have no effect Eg. Sickle cell anemia single base substitution = GAG (glutamic acid) -> GTG (valine) -> Frameshift DNA read in codons of three bases Addition/deletion of single base -> change reading frame for rest of sequence of gene
DNA SELF-REPAIR
DNA dmg not uncommon BUT genome has ability to repair itself Mutation only occurs when repair system fails to work properly - Genes responsible for repairing operate: -> during DNA replication copying errors -> continuously spontaneous dmg - Typical Repair System: (Base excision repair) -> enzyme remove dmg section (DNA glycoslases) -> enzyme add missing bases (DNA polymerase) -> enzyme repair break in back bone (DNA ligase)