What is a mutation GENETIC MUTATIONS MISTAKES IN

What is a mutation? ? ?

GENETIC MUTATIONS MISTAKES IN DNA

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 Val-his-leu-thr-pro-val-glu-

Muscular Dystrophy is caused by a frameshift mutation

THE CAT SAW THE DOG

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

Turner’s Syndrome:

Klinefelter’s Syndrome:

Mutations in nature: