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