A MISTAKE CAN BE: 1. A point mutation – substitution, addition, or removal of a single DNA base. 2. A frameshift mutation – a point mutation due to an addition or deletion of a DNA base that causes a major change in the genetic code.
Sickle cell anemia is caused by a point mutation - substitution Val-his-leu-thr-pro-glu-glu Val-his-leu-thr-pro-val-glu-
Muscular Dystrophy is caused by a frameshift mutation
CHANGE THE W TO A T: THE CAT SAT THE DOG CHANGE THE D TO AN H THE CAT SAW THE HOG
MAJOR MISSENSE: REMOVE THE “C” THE ATS AWT HED OG This type of mutation causes a protein to be non-functional. It is a severe problem and can be lethal.
MAJOR MISSENCE: INSERT AN “M” after the first “The”. THE MCA TSA WTH EDO G The body cannot make sense out of the incorrect protein, just as the sentence no longer makes sense to you.
Nonsense When a point mutation codes for a STOP in the middle of a sequence. Could be due to any of the point mutations. Nonfunctional dystrophin, the protein that helps attach your skeletal muscle to its surroundings.
Some mutations involve whole chromosomes: 1. Deletion: A piece of a chromosome is lost because of breakage during cell division Cri du chat
Inversion: A piece of a chromosome breaks off and reattaches backwards. The effect can be lethal.
Duplication: A portion of the chromosome is copied and placed in the same chromosome.
Translocation: a piece of a chromosomes breaks off and reattaches to a non-homologous chromosome
Non-disjunction: A chromosome fails to separate from its homologue during meiosis