Big Q: What are mutations? Big Q: How do mutations affect genes?

ENgage - Telephone Can we get the message through the whole class without a mistake? Pretend this happened with DNA when it was being copied from one cell to the next. What would happen?

Explain - Mutations Mutations - heritable changes in genetic information Can occur in both genes or whole chromosomes: 1. Gene Mutations - incorrect genes in the code 2. Chromosomal Mutations - abnormalities to chromosome number or shape

Explain - Gene Mutations Point Mutations - gene mutations are called point mutations because they occur at a single point in the DNA Types: 1. Substitutions - one base is changed to a different base 2. Insertions - insertion of one base 3. Deletions - deletion of one base Insertions and deletions are also known as frameshift mutations because they shift the reading frame of the genetic message

Elaborate - Read the Sequence THEBOYSAWTHETANDOGRUN Insertion - THEBOYSAWATHETANDOGRUN Deletion - THEBOYSAWTETANDOGRUN Substitution - THEBOYSAWTANTHEDOGRUN

Explore - What do these mean? Define the following: Delete - Invert - Duplicate -

Explain - Chromosomal Mutations Types of mutations: 1. Deletion- loss of all or part of chromosome 2. Inversion - reverse direction of DNA in chromosome 3. Duplication - extra copy of part or all of a chromosome 4. Translocation - crossing over of chromosomes

Elaborate - Modeling Mutations Model frameshift mutations and substitutions with words and sentences. ****Answer all questions on your Quick Lab Worksheet

Explain - Effects of Mutations Mutagens - chemical or physical agents in the environment that cause mutations Two Types: 1. Harmful Mutagens - change protein structure 2. Helpful Mutagens - enhance protein function Polyploidy - extra set of chromosomes

Evaluate - Genetic Disorders Research and create an information pamphlet about a genetic disorder. 1. Sickle Cell Anemia 2. Hemophilia 3. Cystic Fibrosis 4. Huntington’s Disease 5. ALS Disease 6. PKU 7. Tourette’s Syndrome 8. Muscular Dystrophy 9. Retinitis Pigmentosa 10. Tay Sach’s Diseas 11. Fragile X Syndrome 12. Angelman Syndrome 13. Patau’s Syndrome 14. Edward Syndrome Include: Type of mutation Symptoms Complications Description of mutation