1. Mutations
9 Biology

2. Mutation Any change of a nitrogenous base in the genetic code
Can be deleterious
Ex. Sickle cell mutation
Can be harmless
Many triplets encode for the same AA
Can be visible
Can be invisible

3. Sickle Cell Anemia
Sickle cell anemia is a condition due to an amino acid change in hemoglobin
Base change changes AA from glu to val
Abnormal hemoglobin molecule deforms the shape of the RBC, causing it to clog blood vessels
Causes fatigue, pain, tissue damage, death

4. Sickle Cell Trait
Patients can have one copy of the defective gene, or two copies
Having 2 copies results in more severe symptoms
Trait developed as a genetic defense against malaria
Persons with the trait do not develop malaria
Parasite cannot survive well in deformed RBCs

5. Albinism Defect in melanin protein
Melanin protein is responsible for hair and skin color
Protection from U.V. radiation
Either patients make no melanin or limited melanin
Patients vulnerable to U.V. radiation because they have no protective pigment

6. Albinism Video

7. Types of Mutations
Deletion or Insertion

8. Types of Mutations, cont.
Substitution
Duplication

9. Types of Mutations, cont.
Inversion
Translocation