1. Mutations Learning Targets: Describe different gene mutations.

2. Overview Cells occasionally make mistakes in copying their own DNA, by inserting the wrong base or skipping a base all together. Mutations - Changes in the genetic material

3. Kinds of Mutations Gene Mutations – Mutations that produce changes in a single gene. Chromosomal Mutations – Produce changes in whole chromosomes.

4. Gene Mutations Point Mutation – Gene mutations involving changes in one or a few nucleotides. – Include substitutions (one base changed to another) – Include insertions and deletions (base inserted or removed from the DNA sequence) Frameshift Mutation – Gene mutations that shift the “reading frame” of a genetic message.

6. Chromosomal Mutations Changes in the number or structure of chromosomes. – May change the locations of genes on chromosomes or the number of copies of some genes Four types: – Deletion – Involves the loss of all or part of a chromosome. – Duplication – Produces extra copies of chromosome parts. – Inversion – reverse the direction of parts of a chromosomes. – Translocation – part of a chromosome breaks off and attaches to another.

8. Genetic Disorders – Hemophilia, – Sickle cell anemia, – Down’s syndrome, – Turner’s Syndrome, – Williams Syndrome, – Tay-Sachs disease, – Cystic fibrosis, – Color blindness and – Phenylketomuria (PKU).

9. References Miller, K. a. (2006). Biology. Boston: Pearson Education, Inc.