Gene Mutations Chromosome Mutations

What happens when there is a mistake during replication? What could go wrong when the DNA is being replicated?

Gene Mutations Point Mutations A. Substitution Frame shift Mutations Insertion Deletion

Point Mutations – substitution One WRONG BASE is used Original The fat cat ate the wee rat. Mutation The fat hat ate the wee rat

Examples of Point Mutations Sickle Cell Anemia

Examples of Point Mutations Tay Sachs Hemophilia B

Frame Shift Mutations A Insertion AAT AGG CAG GTT Deletion AAT AGG CAG GTT

Frame Shift Mutations A Insertion AAT AGG CAG GTT becomes AAT AAG GCA GGT … Deletion AAT AGG CAG GTT becomes AAA GGC AGG …

Frame Shift Original The fat cat ate the wee rat. Insertion The fat caa tet hew eer at.

Example of Frame Shift Mutation: Huntington’s Disease

Chromosome Mutations 1. Inversions 2. Duplications 3. Deletions 4. Translocations

Incorrect Chromosome Number – from nondisjunction during meiosis Trisomy 21 causes Down’s Syndrome http://learn.genetics.utah.edu/units/disorders/whataregd/down/