Real World Mutations
by irais & Kathryn
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
Symptoms:
· A low number of red blood cells (anemia)
· repeated infections
· Periodic episodes of pain.
· yellowing of the eyes and skin
Treatment:
· 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
Insertion
Insertion is the addition of one or more nucleotide base pairs into a DNA sequence
· Huntington’s Disease
- What: a hereditary disease marked by degeneration of the brain cells and causing chorea
- Symptoms: amnesia, delusion, abnormality walking, muscle spasms, hallucination, tremors, weight loss
- Treatment: physical therapy, counseling
Deletion
Deletion is wh hen part of a DNA molecule is not copied during DNA replication
·
cystic fibrosis
- is An inherited life-threatening disorder that damages the lungs and digestive system
- Symptoms: pain in the abdomen, burning in chest, coughing up blood, fatigue or inability to exercise, delayed puberty or slow growth, shortness of breath or wheezing
- Treatment: prescriptions, vaccines, or see a specialists
Splice Site
· Splice Site is a genetic mutation that inserts, deletes or changes a number of nucleotides where splicing takes place
· Frasier Syndrome
- a condition that affects the kidneys and genitalis
- symptoms: tumors, fatigue, cancerous affects
- treatment: chemotherapy, hysterectomy
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.
Symptoms
· 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
Sources
- http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/M/Mutations.html#Missense
- https://ghr.nlm.nih.gov/condition/sickle-cell-disease
- http://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/basics/treatment/con-20019348
- https://www.nlm.nih.gov/medlineplus/ency/article/001204.htm
- https://www.google.com/search?q=sickle+cell+anemia&safe=strict&espv=2&biw=1288&bih=707&source=lnms&tbm=isch&sa=X&ved=0ahUKEwiZwc7pocrLAhWI7yYKHUefDlsQ_AUIBigB#imgrc=OYhpqOJHUC7jSM%3A
- https://www.google.com/search?q=sickle+cell+anemia&safe=strict&espv=2&biw=1288&bih=707&source=lnms&tbm=isch&sa=X&ved=0ahUKEwiZwc7pocrLAhWI7yYKHUefDlsQ_AUIBigB#safe=strict&tbm=isch&q=silent+mutations&imgrc=X4mhDnQkQHHL0M%3A