Unit 3.4 Studying Human Genetics and Biotechnology

1. Unit 3.4 Studying Human Genetics and Biotechnology Page 67

2. Flashcard Warm-up Nov. 2nd #42 • Pedigree • A chart of an individual's ancestors used in human genetics to analyze inheritance of certain traits • Individuals expressing the trait are shaded in black • Squares represent males • Circles represent females • Lines connecting males and females represent marriage • A vertical line from a marriage means these are their kids

3. Genetic disease review • Autosomal, sex-linked, or chromosome anueploidy? • Cystic fibrosis • Color-blindness • PKU • Huntington’s disease • Down’s syndrome • Hemophilia • Sickle Cell anemia • Klinefelters

4. A. Problems Studying Human Genetics 1. Ethically irresponsible to conduct testcrosses on humans. • Testcross: method to determine the genotype for a dominant phenotype (AA or Aa?), always use homozygous recessive to compare unknown to. 2. Humans have long life spans and it requires decades to produce several generations to study. • Small number of offspring (and long gestational periods)

5. Techniques Used to Study Human Genetics 1. Population Sampling- determine how often a trait appears in a small randomly selected group, then apply to the entire population. 2. Pedigrees: graphical record of the inheritance of a single trait over several generations. • Determined based on family/historical documents, interviews, photographs, and medical records.

6. C. Pedigrees • Shapes represent individuals in pedigrees, connecting lines represent relationships. • Helpful Hints for figuring out pedigrees • If the pedigree is showing a SEX-LINKED trait: • No male carriers • Trait cannot be passed from father to son • More males will express the trait

8. If the pedigree is showing an AUTOSOMAL recessive trait • Trait can skip a generation • Trait CAN be passed from father to son

9. D. Human Genome Project • The Human Genome Project: is a collaborative effort among scientists worldwide to map the genes of humans. Allowing them to detect gene variations on the chromosomes which may indicate a disorder. • Hopes are to develop gene therapy or genetically based medicines.

10. Ticket Out the door • Match the genetic disease with the description • 1. Cystic fibrosis • 2. Hemophilia • 3. Klinefelters Syndrome • 4. Down’s syndrome • 5. Turner’s syndrome • 6. PKU inability to break down an amino acid called phenylalanine Sex-linked recessive trait, blood does not clot properly Sex chromosome anueploidy, XXY, male with female sex characteristics Trisomy 21, mental retardation, flattened facial features, heart problems Sex chromosome anueploidy, X, female but sterile Autosomal recessive, build up of mucus in the lungs and digestive system.

11. Warm-up Nov. 5th #43 • Draw the pedigree, then determine if it is: • Sex-linked or Autosomal Pedigree? Dominant or recessive? • EXPALAIN HOW you knew

12. Sex-linked or Autosomal Pedigree?Dominant or recessive? • Explain HOW you know

13. Genes, Genetics and DNA Video • 1. What do you sometimes call the special images showing an organism’s sequence of DNA bases? • 2. How many genes do humans have? • 3. What do you call it when scientists change the genes that • line a DNA molecule? • 4. What is the process called where abnormal genes are • replaced with healthy ones?

14. 1. What do you sometimes call the special images showing • an organism’s sequence of DNA bases? • A DNA fingerprint • 2. How many genes do humans have? • More than 30,000 • 3. What do you call it when scientists change the genes that • line a DNA molecule? • Genetic engineering • 4. What is the process called where abnormal genes are • replaced with healthy ones? • Gene therapy

15. E. Detection of Genetic Disorders • Genetic Counseling: can help parents determine the chances of passing a harmful genetic trait to their child • Sonograms: use of sound waves to produce a picture of a fetus • Used to evaluate baby’s growth and development • Blood tests: used to screen for proteins • Alpha-Feto protein test (AFP)- Levels determine if baby is at risk for Down’s syndrome, Turner’s , or spina bifida.

16. Amniocentesis: Removes amniotic fluid with fetal cells which can be cultured and produce a karyotype. • Karyotype: a picture of the chromosomes • Can identify Down’s, Klinefelters, and Turners. • Chorionic Villi Sampling: removes tissue from the placenta for karyotyping. • This can be done earlier in pregnancy and is more risky.

17. Karyotypes

18. F. Prevention/Treatment • Genetic diseases cannot be cured but treated: • Pain medication: to relieve symptoms. • Occupational Therapy: help people who have conditions improve their ability to perform everyday tasks • Blood Transfusions: Sickle-cell/ Hemophiliacs may require this. • Gene Therapy: use vectors (viruses) to replace defective genes with normal ones • Ex. Treating cystic fibrosis and hemophilia • http://www.edu365.cat/aulanet/comsoc/Lab_bio/simulacions/GeneTherapy/GeneTherapy.htm

19. 1. A DNA fingerprint • 2. More than 30,000 • 3. Genetic engineering • 4. Gene therapy

20. Warm-up Nov. 7th #44 • Gene Therapy • Replacing “bad” disease genes with “good” genes to help people with diseases like cystic fibrosis • Viruses are used as vectors (vehicles to carry the good genes) into the person with diseased genes • Gene therapy is like …..

21. Helpful Tips for DNA extraction! • Make sure to chew on your gums a little while swishing your gatorade for 1 minute • When ready to fill your small vial with gatorade that you spit out, ONLY FILL YOUR vial to 6 ml line. • When adding the meat tenderizer (enzymes) add a PINCH, as if you were cooking (this is in the white bowl) • Each time it tells you to let it sit for 10 mins. 5 will be ok • When ready to add isopropyl alcohol to your tube add it at an angle and add slowly (it will separate out at the top)

22. Warm-up #45 Nov. 8th • Watch the video about the TRUE story of Ronald Cotton and Jennifer Thompson. • http://www.youtube.com/watch?v=u-SBTRLoPuo • WHAT evidence do we often use NOW to aid in the conviction of a criminal? • EXPLAIN the unique situation of Ronald Cotton. WHY was he convicted? • What happened to free Ronald Cotton? • Can you think of another case where DNA evidence DID NOT convict a criminal, even though the evidence was there?

23. DNA Fingerprint • DNA fingerprint- A unique band pattern made of DNA fragments. • Unique to every individual, unless you have an identical twin

24. Uses for DNA • Violent Crimes – determines source of DNA left at a crime scene.

25. Uses of DNA • Paternity - used to determine the father of a child

26. Gel Electrophoresis-tool used to create a DNA fingerprint, it separates pieces of DNA based on size (# of base pairs).

27. Steps in DNA Fingerprinting • Step 1: Restriction enzyme cleaves the DNA sample at a specific sequence. • Restriction enzyme: the enzymes that “cuts” the DNA between the nitrogen bases • Cleave: to Cut (between nitrogen bases)

28. Step 2: DNA fragments are loaded into wells on a gel. • Step 3: Bands are created as electricity forces DNA fragments through the gel. Small pieces move further than larger pieces. • Step 4: Compare to other DNA samples.

29. Running a gel fragments of DNAseparate out based on size Stain DNA • ethidium bromide binds to DNA • fluoresces under UV light cut DNA with restriction enzymes 1 2 3

31. Ticket out the Door 1. Why are restriction enzymes important when making a DNA fingerprint? 2. What do the bands represent on a DNA fingerprint? 3. Using the fingerprint to the right who is a possible suspect for murder?

34. Warm-up Nov. 8th #45 • Genetically Modified Foods (GMO’s) • These foods, through genetic engineering, have been altered in such a way to benefit humans by improving the efficiency or nutrition of plants and animals Recombinant DNA OR Genetic Engineering Technology that combines DNA from two different organisms. One practical application of this process is making human insulin for people with Diabetes.

35. Can we mix genes from one creature to another? YES!

36. We have been manipulating DNA for generations! • Artificial breeding • creating new breeds of animals & new crop plants to improve our food

37. Breeding food plants Evolution of modern corn (right) from ancestral teosinte (left).

38. H. Genetic Engineering • Genetic Engineering: Modifying DNA or creating recombinant DNA. • Transgenic Organism: an organism which contains foreign DNA from another species. • Recombinant DNA: form of artificial DNA that is created by combining two different sources of DNA. A gene isolated from a species of jellyfish which causes fluorescence was introduced into marmoset embryos that allows them to build green fluorescent protein (GFP) in their tissues. Which glows green when exposed to blue light.

39. DNA is like a RECIPE BOX!DNA is found in EVERY living organism.

40. transformedbacteria gene fromother organism recombinantplasmid + vector plasmid growbacteria harvest (purify)protein (INSULIN) Grow bacteria…make more

41. Process in creating Transgenic organism: • Step 1: Restriction enzyme is used to cleave the desired gene from a DNA sequence (ex. Insulin). • Step 2: The same restriction enzyme is used to cleave the vector. • Vector: The structure used to carry the foreign DNA, bacterial plasmids are commonly used. • Plasmid: Circular DNA found in bacteria

42. Step 3: Foreign DNA and Vector spliced together • Splice: Combine • Step 4: The recombinant DNA is inserted into the host (bacteria cell). Then the host cell will copy and produce the protein. • Insulin can be produced in large quantities by using genetic engineering and bacteria.

43. Warm-up Nov. 13th #47 • Use the picture and your Notes to explain the STEPS Involved in GENETIC ENGINEERING

44. transformedbacteria gene fromother organism recombinantplasmid + vector plasmid growbacteria harvest (purify)protein (INSULIN) Grow bacteria…make more

45. Finishing up unit 3! • 1. Finish your video from the lab we were completing Friday (EVERYONE in your group should be involved) • 2. Use the following website to help with completing of the genetic engineering review sheet • www. tinyurl.com/recombDNA 3. Then complete 3.4 Review and Preview Homework: Don’t Forget We will review some, then test on ALL of unit 3! DNA structure, replication, protein synthesis, mendelian genetics, nonmendelian genetics, human genetics, pedigrees, karyotypes, genetic diseases, and biotechnology (DNA fingerprints, gene therapy, and genetic engineering)

46. I. Bioethical Concerns for Genetic Engineering • Should we produce artificial proteins? • Allergic reactions (adding a peanut gene to a corn plant) • Stem cell research • Environmental problems from creating transgenic organisms: • Super weeds • Antibiotic resistant bacteria • Destruction of beneficial insects like bees by pesticides

47. Genetic Engineering Simulation • As you are working through the activity you will create an iMovie to EXPLAIN the process. • EACH person in your group should EXPLAIN at least ONE step in the process (most will need to do 2). • Using your manipulatives, explain the process as you are working through the steps. • Then answer the lab questions

48. Ticket Out the Door 1. Why are restriction enzymes important when making a DNA fingerprint? 2. What do the bands represent on a DNA fingerprint? 3. Using the fingerprint to the right who are possible suspects for murder? 4. __________ DNA is another name for modified DNA that was genetically engineered. 5. _________ organisms contain the new foreign DNA after the process of applying modified DNA. 6. A ________ is used to carry the foreign DNA.

49. NO Warm-up today!! • Get out Bio apps (pgs. 73-74) • Don’t Forget (pg. 75) • GRAFETTI review • Each group will be given a DIFFERENT colored marker. • You must add something you KNOW about each topic to the poster. • DO NOT DUPLICATE information (read ALL information previous groups have written) . See me if you think something is inaccurate. • You may add pictures, explanations, etc.