Duchene Muscular Dystrophy Introduction

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Presentation transcript:

Duchene Muscular Dystrophy Introduction

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

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

Smith Family Genetics

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)

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?

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

Smith Family Electrophoresis Results

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