1. Sources of Genetic Change (types of mutations)
1. Point Mutations - changes in base pairing
0. Base pair substitutions - incorrect pairing (A with G or C with T); affects one codon
1. Frameshift mutations - affects remainder of gene
1. Additions (duplications) - a base pair is added
2. Deletions - a base pair is deleted
2. Chromosomal Aberrations
0. Inversions - ABCDEFGH ... ABCFEDGH
1. Pericentric - includes the centromere
2. Paracentric - does not include the centromere
1. Translocations - "Jumping Genes"
1. Homologous (transpositions) - gene(s) jump to another location on the same chromosome
2. Heterologous - genes jump to another chromosome (if there is a trade, it is called "reciprocal")
2. Duplications - ABCDEFGH ... ABCABCDEFGH
1. Intercalary - middle of chromosome
2. Terminal - end of chromosome
3. Deletions - ABCDEFGH ... ABC_EFGH
1. Intercalary - middle of chromosome
2. Terminal - end of chromosome
3. Changes in Chromosomal Number
0. Aneuploidy - changes by number of individual chromosome(s)
1. Nullisomy - missing a chromosome pair (lethal in humans)
2. Monosomy - missing a chromosome (ie: Turner Syndrome, X0 females)
3. Trisomy - extra chromosome (ie: Klinefelters Syndrome, XXy males)
4. Tetrasomy, and so on…
1. Euploidy - changes by entire genomes
1. Haploidy (monoploidy) - male hymenopterans, human gametes
2. Diploidy - typical adult humans
3. Triploidy - An extra set (half genome for diploids)
4. Tetraploidy…