Unit Four: Genetics

1. Unit Four: Genetics Using Sickle Cell Disease as a tool to gain an understanding of the inheritance of traits

2. What is Sickle Cell Disease? • Caused by an abnormal a gene • Affects red blood cells • Hemoglobin- carries oxygen from the lungs to all parts of the body.

3. How do you get it? • It is an inherited blood disorder • Both parents have to have it to pass on the abnormal gene • If you inherit the problem gene from one parent and a normal gene from the other • ‘Sickle cell trait' or be a Carrier • Doesn't usually cause any symptoms • Can be passed on to the next generation.

5. What do we know about genetics? • Homozygous • Heterozygous • Dominant • Recessive • Wildtype • Carrier • Punnet Square • Pedigree • Chromosome • Gene • Genetics • P generation • F1s • F2s • Hybrids • Mendel?

6. With two carriers= 25% Chance of Sickle Cell • For every pregnancy when both parents have sickle trait, there is a 1in 4 chance that their offspring will have sickle cell anemia.

7. What causes the signs & symptoms? • Red blood cells are donut-shaped and flexible • In people with SC the cells are hard and sickle shaped • Block small blood vessels • Stop oxygen • This blockage causes pain

9. Hemoglobin • Protein • Primary component of red blood cells • Composed of four sub-units • Each carries one oxygen molecule • People with sickle cell have abnormal hemoglobin

10. Abnormal Red Blood Cells & Hemoglobin Pain, Persistence, Family: Sickle Cell Disease • Do not last in the circulatory system and • Breakdown quickly • Causing anemia (low hemoglobin) • Liver struggles to get rid waste • Symptoms: • Tired and pale • Jaundice • Gallstones causing tummy pain • Kidney problems • Hip and joint pain • Stroke • Heart attack • Sudden death

11. Activity 4.1.1: Key Terms • Amino Acid • Alpha-globin • Anemia • Beta-globin • Complication • Hemoglobin • Prognosis • Protein • Sickle cell • Symptom • Trait

12. OMHS Community Benefit Fund Grant Presentations • Step Up the Beat! • AlekBlandford, Makailah Cecil, Dakota Edgell and AkeelKalik • Dissipating the Smoke • Amber Howard, Elizabeth Hurmand Lucy Kurtz • herOes • Andrew McIntosh, Cole Tapp, Tyler White • SOS Project • Emily Linn, Elaine Leslie, KanyonTapp and Makayla Claiborne

13. OMHS Community Benefit Fund Grant Presentations • River Run for Fun • KalebDeker, Trey Kinison, Kristina Canary and Candace Young • Drop that Cigarette • Emma Fitzgerald, Harsh Moolani and SonalMuthalali • Helping Complete the Puzzle • Marissa McDaniel, Wade Hall and Chance Meeks • Kickball Tournament to Fight Obesity • Braden Johnson, Nate Martin, Eric Schwenderand Harrison Spain Thanks to our EXPERTS!

14. The Winner of the OMHS Grant Contest Is…

15. Objectives • Perform the HerOs skit at a minimum of two area elementary schools, in front of approximately 300-500 students total. • Scheduling will immediately commence when our grant is accepted. • We will visit two schools at minimum and add additional schools as money and time allow. • Distribute HerOs pamphlets to each student who views our performance. The pamphlet will include: • Facts on obesity; • Active alternatives to watching TV or playing video games; and • Easy snack ideas kids can make themselves or request from their parents. • Preceding and following each performance we will administer a very short survey to gauge our ability to inform our audience. • It is our hope that the 60% of our audience will demonstrate increased knowledge concerning obesity.

16. Brainstorm: Budget What resources do we have? • Anyone’s parents sew? Hand-made superhero costumes? • Work with TWO on the skit? • Anyone’s parents work at elementary schools? • Any printing resources? • What other resources do we have (list):

18. Get Involved! Sign Up! • Acting in the Skit • Writing/Directing the Skit • Props/Costumes for the Skit • Scheduling with Elementary Schools • Creating the Brochure • Prizes

19. Activity 4.1.3 & 4.1.4 • Activity 4.1.3 Due TODAY! • Activity 4.1.4 Due Monday: Pick 2! • Epidemiologist • Clinical Laboratory Technician • Hematologist

20. Genetic Basis for Sickle Cell Disease • PBS Sickle Cell Link(Video) • A bit on evolution….

21. 0 • What were Darwin’s Main ideas anyway??? • Species change over time • Living species have arisen from earlier life forms (descending from a common ancestor) • Darwin’s main ideas • Close ties between organisms and their environments* • Can be traced back to the ancient Greeks

22. Evolution is the greatest unifying theme in biology, and The Origin of Species fueled an explosion in biological research and knowledge that continues today. Evolutionary theory continues to expand beyond Darwin’s basic ideas. Nonetheless, few contributions in all of science have explained so much, withstood as much repeated testing over the years, and stimulated as much other research as those of Darwin.

23. 0 • Natural Selection • Produce more offspring than the environment can support • Individuals of a population vary in their characteristics • Many characteristics can be inherited • Beneficial characteristics are preferentially passed down

24. Hundreds to thousands of years of breeding (artificial selection) Ancestral dog (wolf) 0 • Darwin found convincing evidence for his ideas in the results of artificial selection • With humans playing the role of the environment

27. Throughout Human Evolution • The best genes survive from one generation to next • Why do we still have some deleterious genetic mutations? • Various mutations have provided a benefit • Extra Iron • Sickle Cell • We continue to see these mutations in modern day humanity even when the benefit no longer exists (leftover)

28. Activity 4.2.2 and 4.2.3 • The Immortal Story of Henrietta Lacks • The first cell line, cultured more than 60 years ago • The HeLa Cell-Line has been reproducing independently, fueling biological research • Bioethics- The study of controversial ethics brought about by advances in biological or medical research

29. The Great Debate • Two sides of the argument • Henerietta’s • Dr. Gey’s • Prep time • Design opening and closing statement • Make THREE KEY arguments • Plan a defense against your opponent

30. Structure of the Great Debate • H: Opening statement (1 minutes) • G: Opening statement (1 minutes) • H: Key Point 1(one minute) • G: rebuttal • H: rebuttal • G: Key Point 1(one minute) • H: rebuttal • G: rebuttal • H: Key Point 2 (one minute) • G: rebuttal • H: rebuttal • G: Key Point 2 (one minute) • H: rebuttal • G: rebuttal • H: Key Point 3 (one minute) • G: rebuttal • H: rebuttal • G: Key Point 3 (one minute) • H: rebuttal • G: rebuttal • H: Closing (one minute) • G: Closing (one minute)

31. Essential Questions & Terms 1.    How does someone get sickle cell disease? 2.    Can sickle cell disease spread from one person to another the same way as a cold or the flu? 3.    How are diseases inherited from parents? 4.    What are examples of human diseases that are inherited? • Chromosome • Dominant trait • Gene • Heredity • Mutation • Pedigree • Sex Chromosome • Recessive trait

32. Activity 4.2.4 & 4.2.5: Pedigrees • How does analyzing pedigrees help doctors, epidemiologists, researchers, and other scientists understand how diseases are inherited? • Essential Questions • 8.    How are pedigrees used to track diseases? • 9.    Why does sickle cell disease run in families, yet is not present in every generation?

34. Activity 4.2.4 & 4.2.5: Pedigrees • How does analyzing pedigrees help doctors, epidemiologists, researchers, and other scientists understand how diseases are inherited? • Essential Questions • 8.    How are pedigrees used to track diseases? • 9.    Why does sickle cell disease run in families, yet is not present in every generation? • Career Journals: Due Friday (pick 1) • Clinical Geneticist • Genetic Counselor • Biostatistician

35. Sign-up to be an LSA Student Ambassador • When • Tuesday, Feb 12th 6-7PM • Where? • In the ATC Builiding (across from our building) • What will I do? • Mingle with perspective students, chat and answer questions about the LSA and our class • OPTION: to speak for 2-3 minutes • Sign Here: Denote with (s) if you’d like to speak!

36. 4.2.6 What’s the Probability? • Essential Question 10 • How can doctors and genetic counselors calculate the probability of a child inheriting a disease? • Don’t forget 4.2.7 Career Journal is due FRIDAY!

37. Activity 4.3.1: How do chromosomes carry information? • What do we know about inheritance of traits and chromosomes? • How do chromosomes carry all the information we need to be alive? • Essential Questions • What are chromosomes made of? • What is DNA? • Meiosis Video • Activity 4.3.1 • Pull from curriculum • Start with number #19 • Skip #20 • Conclusion questions (on separate sheet) due tomorrow!

38. Activity 4.3.2 • Essential Questions 3 and 4 • 3.    What is the relationship between chromosomes, DNA, and genes? • 4.    Does every cell in an organism have the same DNA? • Key Terms • Adenine • Buffer • Cytosine • Gene • Guanine • Helix • Histone • Hydrogen bond • Lysis • Model • Nucleotide • Thymine • Supernatant

39. Activity 4.3.3 • Essential Question • 5. How do scientists isolate DNA in order to study it?

40. Activity 4.3.3

41. Chromosomes—What We Know • Located in the cell’s nucleus. • Humans have 23 pairs. • Inherit one of each of the 23 types of chromosomes from each parent. • Passed to new generation in sperm and egg cells. • Inherited diseases are passed to new generation on chromosomes.

43. Chromosome Structure • Each chromosome consists of a single molecule of deoxyribonucleic acid (DNA). • Basic chromosomal structure is the same in all cells that contain a nucleus. • Chromosome Function • Contains the code or instructions for how to make specific proteins which then determine the organism’s traits. • The specific instructions for a protein are on sections of the chromosome called genes.

44. Chromosomes and Sickle Cell • Chromosome 11 carries the instructions (genes) to make the hemoglobin protein. • There are different versions of these genes: • Normal--healthy • Mutated or changed--Sickle cell or other hemoglobin disorder.

45. What is a gene? • A section of DNA that corresponds to a discreet unit of heredity • Information needed to make a specific polypeptide (chain of amino acids) • Proteins that are a single polypeptide are usually associated with a single gene • Proteins that consist of multiple polypeptides are associated with multiple genes

47. 4.3 Essential Questions & Key Terms • What is the relationship between chromosomes, DNA, and genes? • Does every cell in an organism have the same DNA? • What are the 3 components of a nucleotide? • What are the names of the four nucleotides? • Which nucleotides are purines? • Which nucleotides are pyrimidines? • What holds the two strands of DNA together? • “Zoom In On Your Genome” • Adenine • Buffer • Cytosine • Gene • Guanine • Helix • Histone • Hydrogen bond • Lysis • Model • Nucleotide • Thymine • Supernatant

49. Activity 4.3.4 • Why didn’t we see the double helix? • Essential Question • 6.    How much DNA is in a single human cell? • If all the DNA in our body was linked end-to-end, how long would the molecule be?” • http://web2.0calc.com

50. Activity 4.3.4 • 1 Angstrom = 1 x 10-10meter • 1 nanometer = 1 x 10-9 meters • 10 Angstroms = 1 nanometer • The rhinovirus = 20nm in size = 200Ao • Each DNA nucleotide pair = 3.4Ao • The diameter of 200Ao = the length of 59 base pairs (200Ao ∕ 3.4 Ao) • http://web2.0calc.com