Acquiring Genetic Disorders

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Slide 1: Acquiring Genetic Disorders How does a person get a genetic disorder? Slide 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 Slide 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 Different forms gene = alleles – Blue eyes or brown eyes Slide 4: DNA also consists of • Part of DNA are switches • Creates variety by: – Turning on / off at different times – Controlling cell formation – Mutations – Turn genes on and off • Junk DNA – Selfish Gene – Many repeats Slide 5: How do you get them? ONLY SOME ARE AFFECTED… WHY? Slide 6: Notice Any Patterns Each is a chromosom e Why are they in pairs? One from mom One from dad Slide 7: Inheritance • Inherit faulty genes • 2 copies of each gene • 1 may be bad or both – Depends on chromosome Slide 8: Disease or Disorder Disease • Caused by mutations • Develop due to change in your genes • Not born with it • Cancer Disorder • Caused by inheritance of faulty gene • Born with it • Down Syndrome, Turner’s Syndrome, Huntington’s Slide 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 Slide 10: Where do they come from? Why are some disorders common to regions around the world? Slide 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 Slide 12: Heterozygous version Shows four possibilities of offspring, not four offspring! Dies from tuberculosis Dies from disorder Survives and reproduces!!! Slide 13: Examples • TaySachs – 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 Slide 14: Can you solve the mystery? GENETIC DETECTIVES CONTINUED Slide 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 Slide 16: Patient Description • Read through the patient description • Highlight any clues – Possible symptoms – Possible causes Slide 17: • 3 stations Lab Stations – Microscope stations – Flow of blood cells (Bottles) • Sketch flow • Describe • Sketch observations • Describe characteristics / differences – Role of blood cell (Use books) • What is their function? • How do they perform this function? • Where do they do it? Slide 18: Can you infer which disorder the patient has? WHAT’S YOUR DIAGNOSIS? Slide 19: Genetic Detectives Poster Rubric Content Diagnosis 1 Diagnosis is not clear 2 3 Diagnosis is clearly identified; no Diagnosis is clearly identified; visual present visual present Evidence of disorder Logical explanation; does not Logical explanation; uses direct Logical explanation; uses direct use direct evidence from either evidence from microscope and evidence from only one lab lab station or illustrations not bottle stations; illustrations station; illustration is provided provided for each piece of provided for each piece of for piece of evidence evidence evidence Explains how a change in DNA Explains how a change in DNA would cause change in blood would cause change in blood cell; does not explain how cell; does not explain how function is affected by strutcural function is affected by strutcural change in protein and does not change in protein or does not identify change in DNA identify change in DNA Missing one explanation or missing two illustrations 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 Cause of disorder Symptoms Treatments Explains how each symptom is Explains and illustrates how 3 caused by disorder; missing one symptoms are caused by illustration disorder Only identifies and describes 1 Identifies 2 possible treatments Identifies and describes 2 treatment or identifies 2 but no for disorder, but one description possible treatments for disorder descriptions are given is missing Slide 20: Resources for disorder • http://www.google.com/notebook/public/11721 Slide 21: The symptoms Explained Slide 22: Pain in the Joints Slide 23: Pain in the joints Slide 24: Fatigue Slide 25: Barry Who??? Muscles need oxygen to work. No oxygen = no energy = no work!!! Fatigue Slide 26: YELLOW: distribution of malaria RED: distribution of sickle cell gene Slide 27: Malaria parasite lives in red blood cell I wish I was heterozygou Move around s for Sickle body undetected Cell Disorder! Slide 28: Heterozygotes win • Resistant to malaria • If infected, more likely to survive… yeah! • Allele passed on – Selected for Slide 30: DNA is the recipe for Proteins • Letters are assembly instructions for proteins • A, C, T, G • Make all 20 amino acids (proteins) Slide 32: Color by number • Each number = a color • Find number, then color • Same with genes • 3 letters = amino acid Slide 33: Color by number • Change a number, change the picture • Change letters, change the protein!!! • Alleles = variations of same genes – Some bad – Some good Slide 36: Natural Selection at Work Slide 37: Areas with Malaria Heterozygous = survival Slide 38: Let’s Test Is there a way to separate and compare proteins? Slide 39: Testing for the Disease • Check patient’s protein against known samples – Patient’s hemoglobin – Normal Hemoglobin – Sickle Cell Hemoglobin Slide 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?