Examples of Genetic Mutation

Examples of
Genetic Mutation
Genetic Mutation
Typically genetic material is passed from generation
to generation without any changes
But genetic mutations do occur! Genetic material
can change
This is essential for the process of evolution but can
also manifest itself in the form of genetic diseases
and conditions
Mutation allows a species to maintain genetic
Most mutations are neutral (neither good nor bad)
Negative Mutations
Cystic Fibrosis
Cystic Fibrosis
Associated with increased thickness of mucus
and sweat
Significantly decreases life expectancy
Most common in Caucasian Jews
Celiac Disease
Celiacs have an adverse reaction to a protein
found in wheat, barley and rye
When 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
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
• 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
• 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