Mutations 9 Biology
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
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
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 https://www.youtube.com/watch?v=R4-c3hUhhyc
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
Albinism Video https://www.youtube.com/watch?v=zd7RRr5Eubg
Types of Mutations Deletion or Insertion
Types of Mutations, cont. Substitution Duplication
Types of Mutations, cont. Inversion Translocation