1. Duchene Muscular Dystrophy Introduction

2. Duchenne Muscular Dystrophy
Sex (X) linked deletion mutation
Gene codes for Dystrophin Protein
Skeletal muscle and heart muscle.

3. DMD – normal development initially
Age of Onset: 3 to 5
Avg. Lifespan: 20

4. Smith Family Genetics

5. How can the genotypes of each family member be determined?
1) samples from family members
& Amniocentesis of unborn baby
2) Add free nucleotides (ATCGs with backbone), primer, and DNA polymerase to each sample
3) Add to Polymerase Chain Reaction Machine (mimics DNA replication)

6. How Does PCR Work? Mimics DNA Replication Denature (heat)
Anneal (primer added to start process)
Extension – nucleotides added by DNA polymerase
How Does PCR Work?

7. What happens when enough copies of DNA are made?
Gel Electrophoresis to separate each gene
Separates by size (smaller moves further)
DNA is negatively charged
Moves through a porous gel toward positive side

8. Smith Family Electrophoresis Results