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Sudden Death and Sickle Cell Trait: How
Knowing Your Genes Can Save Your Life

               Dale Lloyd II, No. 39.
              (The Rice Football Webletter)
              2006

              After running 16 consecutive sprints
              of 100 yards each, he collapsed.
              He died the next day from acute
              exertional rhabdomyolysis (ER)
              associated with a genetic condition
              called sickle cell trait.


                                     Learning Set 4 : Lesson 1 : Slide 1
Blood Cells




Normal Blood    Sickle Cell Trait   Sickle Cell Disease
   Cells          Blood Cells          Blood Cells




                                        Learning Set 4 : Lesson 1 : Slide 2
Sickle Cell Disease




• Interview with sickle cell patient: pain

• View Video on sickle cell anemia

• View video on sickle cell trait
                                             Learning Set 4 : Lesson 1 : Slide 3
Hemoglobin

                      Hemoglobin subunit

Red Blood Cell




                                     Oxygen molecule

                                      o         o




                                           Learning Set 4 : Lesson 1 : Slide 4
Hemoglobin (transport protein)


                                  oxygen molecule (O2)
                  Hemoglobin
                    subunit




Red Blood Cell




                                   Learning Set 4 : Lesson 1 : Slide 5
Hemoglobin




             Learning Set 4 : Lesson 1 6Slide 6
                                       :
Hemoglobin




             Learning Set 4 : Lesson 1 7Slide 6
                                       :
Hemoglobin




             Learning Set 4 : Lesson 1 8Slide 6
                                       :
Hemoglobin




             Learning Set 4 : Lesson 1 9Slide 6
                                       :
Hemoglobin




             Learning Set 4 : Lesson 1 10
                                       : Slide 6
Hemoglobin




             Learning Set 4 : Lesson 1 11
                                       : Slide 6
Hemoglobin




             Learning Set 4 : Lesson 1 12
                                       : Slide 6
Hemoglobin




             Learning Set 4 : Lesson 1 13
                                       : Slide 6
Hemoglobin




             Learning Set 4 : Lesson 1 14
                                       : Slide 6
Electrophoresis of Sickling and
   Non Sickling Hemoglobin




                          Learning Set 4 : Lesson 2 : Slide 7
Electrophoresis of Sickling and
   Non Sickling Hemoglobin




                          Learning Set 4 : Lesson 2 : Slide 8
Chromosomal Location of Hemoglobin

          Chromosome 11




                          Learning Set 4 : Lesson 2 : Slide 9
Mutation found in Hemoglobin




                        Learning Set 4 : Lesson 2 : Slide 10
Mutation found in Hemoglobin




                        Learning Set 4 : Lesson 2 : Slide 11
“Rules” that amino acids follow

•   Charge
     – Positive and negative charged amino
                                                     Red = positive charge (+)
         acids attract each other                      K, R, H
     – Amino acids with the same kind of charge
         repel each other                            Yellow = negative charge
•   Hydrophobicity                                     (-)
     – Hydrophilic amino acids attract water
     – Hydrophobic amino acids repel water and
                                                       D, E
         hydrophilic amino acids                     Green = hydrophobic
     – Hydrophobic amino acids attract other
         hydrophobic amino acids.                      A, V, L, I, P, M, F, W
•   Cysteines                                        Blue = hydrophilic
     – Cysteines are a type of amino acid. When
         two Cysteines are next to each other they     G, S, T, N, Q, Y
         attract and form a strong bond. These
         strong bonds contribute to protein shape
                                                     White = cystine
         formation.                                    C


                                                                 Learning Set 4 : Lesson 2 : Slide 12
Sickle Cell Hemoglobins Stick Together




                            Learning Set 4 : Lesson 2 : Slide 13
Electrophoresis of Sickling and
   Non Sickling Hemoglobin




                          Learning Set 4 : Lesson 2 : Slide 14
Effects of Sickle Cell Mutation
                                DNA


                               order of
L   T   P    E   E   K   S               L   T   P     V      E       K      S
                             amino acids


                               protein
                               shape




                                cell
                              function

                                                 Learning Set 4 : Lesson 2 : Slide 14
Passing on Mutations




                       Learning Set 4 : Lesson 3 : Slide 16
Frequency of Sickle Cell Causing Mutation
vs. Frequency of Malaria Causing Microbe




  http://www.pbs.org/wgbh/evolution/library/01/2/l_012_02.html

                                                   Learning Set 4 : Lesson 4 : Slide 17
Analyzing RNA Using Gel Electrophoresis




                             Learning Set 4 : Lesson 5 : Slide 18
Who has lactose intolerance in Jason’s family?




                                  Learning Set 4 : Lesson 5 : Slide 19
DNA Sequence Analysis of Lactase
         Protein Gene




                          Learning Set 4 : Lesson 5 : Slide 20
Gel Electrophoresis: Lactase Protein
   Samples from Jason’s Family




                            Learning Set 4 : Lesson 5 : Slide 21
RNA Analysis of Lactase Protein Gene




                            Learning Set 4 : Lesson 5 : Slide 22
DNA Sequence of Area Near the Lactase Gene




                              Learning Set 4 : Lesson 5 : Slide 23

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How Genes Can Save Lives

  • 1. Sudden Death and Sickle Cell Trait: How Knowing Your Genes Can Save Your Life Dale Lloyd II, No. 39. (The Rice Football Webletter) 2006 After running 16 consecutive sprints of 100 yards each, he collapsed. He died the next day from acute exertional rhabdomyolysis (ER) associated with a genetic condition called sickle cell trait. Learning Set 4 : Lesson 1 : Slide 1
  • 2. Blood Cells Normal Blood Sickle Cell Trait Sickle Cell Disease Cells Blood Cells Blood Cells Learning Set 4 : Lesson 1 : Slide 2
  • 3. Sickle Cell Disease • Interview with sickle cell patient: pain • View Video on sickle cell anemia • View video on sickle cell trait Learning Set 4 : Lesson 1 : Slide 3
  • 4. Hemoglobin Hemoglobin subunit Red Blood Cell Oxygen molecule o o Learning Set 4 : Lesson 1 : Slide 4
  • 5. Hemoglobin (transport protein) oxygen molecule (O2) Hemoglobin subunit Red Blood Cell Learning Set 4 : Lesson 1 : Slide 5
  • 6. Hemoglobin Learning Set 4 : Lesson 1 6Slide 6 :
  • 7. Hemoglobin Learning Set 4 : Lesson 1 7Slide 6 :
  • 8. Hemoglobin Learning Set 4 : Lesson 1 8Slide 6 :
  • 9. Hemoglobin Learning Set 4 : Lesson 1 9Slide 6 :
  • 10. Hemoglobin Learning Set 4 : Lesson 1 10 : Slide 6
  • 11. Hemoglobin Learning Set 4 : Lesson 1 11 : Slide 6
  • 12. Hemoglobin Learning Set 4 : Lesson 1 12 : Slide 6
  • 13. Hemoglobin Learning Set 4 : Lesson 1 13 : Slide 6
  • 14. Hemoglobin Learning Set 4 : Lesson 1 14 : Slide 6
  • 15. Electrophoresis of Sickling and Non Sickling Hemoglobin Learning Set 4 : Lesson 2 : Slide 7
  • 16. Electrophoresis of Sickling and Non Sickling Hemoglobin Learning Set 4 : Lesson 2 : Slide 8
  • 17. Chromosomal Location of Hemoglobin Chromosome 11 Learning Set 4 : Lesson 2 : Slide 9
  • 18. Mutation found in Hemoglobin Learning Set 4 : Lesson 2 : Slide 10
  • 19. Mutation found in Hemoglobin Learning Set 4 : Lesson 2 : Slide 11
  • 20. “Rules” that amino acids follow • Charge – Positive and negative charged amino Red = positive charge (+) acids attract each other K, R, H – Amino acids with the same kind of charge repel each other Yellow = negative charge • Hydrophobicity (-) – Hydrophilic amino acids attract water – Hydrophobic amino acids repel water and D, E hydrophilic amino acids Green = hydrophobic – Hydrophobic amino acids attract other hydrophobic amino acids. A, V, L, I, P, M, F, W • Cysteines Blue = hydrophilic – Cysteines are a type of amino acid. When two Cysteines are next to each other they G, S, T, N, Q, Y attract and form a strong bond. These strong bonds contribute to protein shape White = cystine formation. C Learning Set 4 : Lesson 2 : Slide 12
  • 21. Sickle Cell Hemoglobins Stick Together Learning Set 4 : Lesson 2 : Slide 13
  • 22. Electrophoresis of Sickling and Non Sickling Hemoglobin Learning Set 4 : Lesson 2 : Slide 14
  • 23. Effects of Sickle Cell Mutation DNA order of L T P E E K S L T P V E K S amino acids protein shape cell function Learning Set 4 : Lesson 2 : Slide 14
  • 24. Passing on Mutations Learning Set 4 : Lesson 3 : Slide 16
  • 25. Frequency of Sickle Cell Causing Mutation vs. Frequency of Malaria Causing Microbe http://www.pbs.org/wgbh/evolution/library/01/2/l_012_02.html Learning Set 4 : Lesson 4 : Slide 17
  • 26. Analyzing RNA Using Gel Electrophoresis Learning Set 4 : Lesson 5 : Slide 18
  • 27. Who has lactose intolerance in Jason’s family? Learning Set 4 : Lesson 5 : Slide 19
  • 28. DNA Sequence Analysis of Lactase Protein Gene Learning Set 4 : Lesson 5 : Slide 20
  • 29. Gel Electrophoresis: Lactase Protein Samples from Jason’s Family Learning Set 4 : Lesson 5 : Slide 21
  • 30. RNA Analysis of Lactase Protein Gene Learning Set 4 : Lesson 5 : Slide 22
  • 31. DNA Sequence of Area Near the Lactase Gene Learning Set 4 : Lesson 5 : Slide 23