1. What’s wrong with the abnormal cells?
Sickled Cell ?

2. What is anemia?

3. Anemia
- insufficient delivery of
oxygen to tissues and
organs.

4. How do red blood cells carry oxygen ?
What protein in red blood cells carries oxygen?

5. What protein in red blood cells carries oxygen?
Hemoglobin

6. Hemoglobin
a complex iron-containing protein that carries oxygen and some carbon dioxide throughout the body. It gives blood its red color

7. Our bone marrow cells produce 100,000,000,000,000 molecules of hemoglobin every second.

8. What does hemoglobin have to do with sickle cell anemia?

9. Causes of Anemia abnormal hemoglobin insufficient amount of hemoglobin
insufficient amount of red blood cells
- genetic factors
- dietary deficiency of iron
premature destruction of red
blood cells

10. Who has the gene(s) for Sickle Cell Anemia?
- approximately 100,000 Americans
- most prevalent in persons of African, Hispanic, Mediterranean, and Middle Eastern descent.

11. Gene for hemoglobin subunit Beta

12. What is the gene mutation that causes sickle cell anemia?
– any change in the base sequence of an organism’s DNA
What is the gene mutation that causes sickle cell anemia?

14. Glutamate

15. Use the information to figure out the mutation in sickle cell anemia
DNA
Codon
mRNA
Amino
Acid

16. Mutation in sickle cell anemia
DNA
Codon
mRNA
Amino Glutamic → valine
Acid Acid (Glutamate)

17. Mutation in sickle cell anemia
DNA
Codon
mRNA GAA → GUA
Amino Glutamic → valine
Acid Acid (Glutamate)

18. Mutation in sickle cell anemia
DNA
Codon
mRNA GAA → GUA
Amino Glutamic → valine
Acid Acid (Glutamate)
CTT → CAT

19. Gene Mutations
Point mutation
– change in one nucleotide

20. Base Pairing

21. DNA
mRNA
DNA
mRNA

22. Deletion of second T in DNA

23. results from insertion or deletion of a nucleotide
Frameshift Mutation
results from insertion or deletion of a nucleotide

27. Mutations Point Mutations (substitution of one nucleotide)
Silent Mutation
Missense Mutation
Nonsense Mutation

29. The Bubble Boy disease

30. SCID Severe Combined Immunodeficiency
SCID is also know as bubble boy disease

31. Signs in first year of life:
Symptoms of SCID
Signs in first year of life:
Eight or more ear infections
Two or more serious sinus infections
Two or more cases of pneumonia
Ineffective treatment with antibiotics
Infections that require intravenous antibiotic treatment
Two or more deep seated infections

32. Adenosine deaminase-
Enzyme that is responsible for the breakdown of an amino group from the adenosine nucleoside.
If there is a lack of adenosine deaminase, the deoxyadenosine builds-up and kills white blood cells.

33. SCID Mutation
Alteration in codons which code for the protein/enzyme adenosine deaminase (ADA)
Adenosine deaminase deficiency
Deficiency of both the B-cell and T-cell forms of immunity

34. SCID Mutation

35. Example of a mutation which causes SCID:
Codon 140
Deletion of guanime (G)
Codon 198
Missense: AG

36. PKU

37. What is PKU? Phenylketnonuria Error of metabolism
Missing the PAH (phenylalanine hydroxylase) enzyme – this causes the its substrate, the amino acid phenylalanine, to build up in the body

38. How the PAH enzyme works
PAH converts toxic amino acids into non-toxic substances

39. Symptoms of PKU In infants, symptoms may include: -Slowed development
-Inability to crawl, turn over and grasp objects
Symptoms are usually recognizable at an early age.

40. Mutation What codon might be responsible for the shorter protein?
Mutant PAH gene
single base substitution, G to A.
protein is 52 amino acids
shorter than normal
What codon might be responsible for the shorter protein?

41. Tay Sachs Disease
Extra credit

42. Can’t make a functional protein
Gene Mutation
Can’t make a functional protein
Genetic (Inherited) Disease

43. Concept map Add the following terms to your concept map
Genetic disease
Mutation
Inherited
Abnormal protein