1. Acquiring Genetic Disorders
How does a person get a genetic disorder?

2. What is a genetic disorder?
Condition caused by abnormalities in genes or chromosomes
In other words
Effects of abnormal DNA
Gene= section of DNA that makes protein

3. DNA The recipe for making organisms
4 nucleic acids
A, G, T, C
Only pieces of DNA code for proteins
Genes
Different forms of gene = alleles
Blue eyes or brown eyes

4. DNA also consists of Part of DNA are switches Creates variety by:
Turn genes on and off
Creates variety by:
Turning on / off at different times
Controlling cell formation
Mutations
Junk DNA
Selfish Gene
Many repeats

5. Only some are affected… why?
How do you get them?
Only some are affected… why?

6. Notice Any Patterns Each is a chromosome One from mom
Why are they in pairs?
One from dad

7. Inheritance Inherit faulty genes 2 copies of each gene
1 may be bad or both
Depends on chromosome

8. Disease or Disorder Disease Disorder Caused by mutations
Develop due to change in your genes
Not born with it
Cancer
Caused by inheritance of faulty gene
Born with it
Down Syndrome, Turner’s Syndrome, Huntington’s

9. Mutants We’re all mutants A change in DNA code
Mistakes during copying
Factor changes DNA
Radiation (sunlight)
Chemicals (smoking)
Mutations accumulate with age

10. Why are some disorders common to regions around the world?
Where do they come from?
Why are some disorders common to regions around the world?

11. Evolution and Natural Selection
Disorders should be selected against
Why are they not gone?
Some disorders help survival
Heterozygous Version
One normal allele, one faulty allele
Carrier but not affected

12. Heterozygous version
Shows four possibilities of offspring, not four offspring!
Dies from tuberculosis
Dies from disorder
Survives and reproduces!!!

13. Heterozygotes Survive
Examples
Tay-Sachs – Tuberculosis
PKU – fungal toxins
Cystic Fibrosis- cholera
Usually affect people in specific regions of the world
Delta 32 mutation
Immune to HIV
European Black Plague
Ancestors may have mutation
Heterozygotes Survive

14. Genetic Detectives Continued
Can you solve the mystery?
Genetic Detectives Continued

15. Genetic Detectives Dr. James Herrick needs your help Mystery disease
You must:
Learn more about the condition
Determine how it affects the body
Explain why it has not been selected against

16. Patient Description Read through the patient description
Highlight any clues
Possible symptoms
Possible causes

17. Lab Stations 3 stations Microscope stations
Sketch observations
Describe characteristics / differences
Flow of blood cells (Bottles)
Sketch flow
Describe
Role of blood cell (Use books)
What is their function?
How do they perform this function?
Where do they do it?

18. Can you infer which disorder the patient has?
What’s your diagnosis?

19. Genetic Detectives Poster Rubric
Content 1 2 3
Diagnosis
Diagnosis is not clear
Diagnosis is clearly identified; no visual present
Diagnosis is clearly identified; visual present
Evidence of disorder
Logical explanation; does not use direct evidence from either lab station or illustrations not provided for each piece of evidence
Logical explanation; uses direct evidence from only one lab station; illustration is provided for piece of evidence
Logical explanation; uses direct evidence from microscope and bottle stations; illustrations provided for each piece of evidence
Cause of disorder
Explains how a change in DNA would cause change in blood cell; does not explain how function is affected by strutcural change in protein and does not identify change in DNA
Explains how a change in DNA would cause change in blood cell; does not explain how function is affected by strutcural change in protein or does not identify change in DNA
Explains how a change in DNA would cause change in blood cell; explains how function is affected by structural change in protein; identifies change in DNA
Symptoms
Missing one explanation or missing two illustrations
Explains how each symptom is caused by disorder; missing one illustration
Explains and illustrates how 3 symptoms are caused by disorder
Treatments
Only identifies and describes 1 treatment or identifies 2 but no descriptions are given
Identifies 2 possible treatments for disorder, but one description is missing
Identifies and describes 2 possible treatments for disorder

20. Resources for disorder

21. The symptoms
Explained

22. Wherever the body bends
Pain in the Joints
Wherever the body bends

23. Pain in the joints

24. Fatigue

25. Muscles need oxygen to work. No oxygen = no energy = no work!!!
Barry Who???
Muscles need oxygen to work. No oxygen = no energy = no work!!!
Fatigue

26. Is there a pattern? Why? YELLOW: distribution of malaria RED:
distribution of sickle
cell gene
Is there a pattern? Why?

27. Malaria parasite lives in red blood cell
I wish I was heterozygous for Sickle Cell Disorder!
Move around body undetected

28. Heterozygotes win Resistant to malaria
If infected, more likely to survive… yeah!
Allele passed on
Selected for

30. DNA is the recipe for Proteins
Letters are assembly instructions for proteins
A, C, T, G
Make all 20 amino acids (proteins)

32. Color by number Each number = a color Find number, then color
Same with genes
3 letters = amino acid
Complete picture = protein

33. Color by number Change a number, change the picture
Change letters, change the protein!!!
Alleles = variations of same genes
Some bad
Some good

35. Genes Are Inherited

36. Natural Selection at Work

37. Areas with Malaria Heterozygous = survival

38. Is there a way to separate and compare proteins?
Let’s Test
Is there a way to separate and compare proteins?

39. Testing for the Disease
Check patient’s protein against known samples
Patient’s hemoglobin
Normal Hemoglobin
Sickle Cell Hemoglobin

40. Your Task Write a letter to the patient that: Identifies the disorder
Explains how you know it is this disorder (evidence)
Explains why each of the symptoms occur
Explains how the patient acquired the disorder
Explains why disorder may have evolved (is it beneficial?, where prevalent?, why?