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Examples ofGenetic Mutation
Genetic Mutation
Typically genetic material is passed from generation to generation without any changesBut genetic mutations do occur! Genetic material can changeThis is essential for the process of evolution but can also manifest itself in the form of genetic diseases and conditionsMutation allows a species to maintain genetic variabilityMost mutations are neutral (neither good nor bad)
Negative Mutations
Cystic Fibrosis
Cystic Fibrosis
Associated with increased thickness of mucus and sweatSignificantly decreases life expectancyMost common in Caucasian Jews
Celiac Disease
Celiacs have an adverse reaction to a protein found in wheat, barley and ryeWhen they consume it they have digestion problems like diarrhea or constipation accompanied by fatigue and anemia
Other (Common) Examples…
• Sickle Cell Anemia• Muscular Dystrophy • Blooms Disease
Less Common Examples
Progeria
Fish Odor Disease (Trimethylaminuria)
Hypertrichosis (Werewolf Symdrome)
Proteus Syndrome
Positive Mutations
Malaria Resistance
• In 1920 it was first documented that black Africans had a higher resistance rate to Malaria
• This is actually due to various genetic mutations making their cells less receptive to the infection (one is the HbS gene)
Increased Bone Density
• Some mutations of the LPR5 gene can cause Osteoperosis
• But others can actually increase bone density• This results in people who very rarely ever
break their bones even when experiencing the same force as the general population
HIV Resistance
• The CKR5 gene is responsible for creating a protein determining what can enter a cell
• A specific mutation can actually result into HIV/AIDS resistance