Real World Mutations

by irais & Kathryn

DNA Mutation 3D Animation

Silent Mutations

a silent mutation in DNA doesn't significantly alter the phenotype of the organism in which they occur. What happens is a letter changes in the DNA codon but an amino acid can code for more than one codon. Therefore there is no change.

Missense Mutations

a missense mutation is a point mutation where a single nucleotide changes and results in a codon that codes for a different amino acid.

  • Sickle cell disease is an example of a missense mutation.sickle cell is a disorder that affects the protein, hemoglobin, in red blood cells that deliver oxygen to cells throughout the body


· A low number of red blood cells (anemia)

· repeated infections

· Periodic episodes of pain.

· yellowing of the eyes and skin


· To treat Sickle Cell Anemia you can take antibiotics, pain relieving medications or a drug called Hydroxyurea. In addition to those you also the option to have blood transfusions or bone marrow transplant.

  • Sickle Cell is Diagnosisby going in to get a blood test

Big image

Nonsense Mutation

A Nonsense mutation is a point mutation in DNA that results in a premature stop codon.

  • An example of a nonsense mutation is Hurler syndrome. Hurler Syndrome involces the metabolism. What happens is that your body can’t break down long chains of sugar molecules.


· Abnormal bones in the spine

· Deafness

· Heart valve problems

· Joint disease, including stiffness

· Intellectual disability that gets worse over time

· Thick, coarse facial features with low nasal bridge

  • To treat Hurler Syndrome you take, laronidase, a medicine that is given through a vain to replace a nonworking enzyme with a working enzyme

To be Diagnosed with Hurler Syndrome you have to go in and get tests for the follow:

· changes to the alpha-L-iduronidase gene

· Urine tests for extra mucopolysaccharides

· X-ray of the spine