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Genetic Mutation and Disease (Factor V mutation (Factor V involved in…
Genetic Mutation and Disease
Breast Cancer
BRCA Mutation :warning:
Decreased ability of body to suppress tumors
Factor V mutation
Factor V involved in normal clotting
Prevents inhibition by activated protein C
Increased risk of thrombosis
Cystic Fibrosis
most common in Caucasions
Symptoms include difficulty breathing and lung infections
Autosomal recessive dominance
Huntington's Disease
Autosomal Dominant Disorder
Common age of diagnosis- 30-40 years old
Symptoms
Uncontrolled movement
Difficulty swallowing
Difficultiy walking
Memory speech and cognitive loss
Down Syndrome
Mutation of Chromosome 21
Occurs in 1,1000 newborns
Symptoms
Decreased muscle tone
Heart and digestive system defects
Developmental delays