1. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Chapter 14 Biotechnology and Society

2. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Biotechnology Uses recombinant DNA technology to produce goods or services It is used in –Agriculture –Medicine –Evolutionary studies –Identification –Criminal investigations

3. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Biopharming Production of medical molecules in other organisms Examples –Human insulin (1982) –Growth hormone (1980s) –Factor VIII (1990s)

4. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

5. Transgenic Animals Genes are transferred between species using recombinant DNA technology Human AGLU from rabbit milk for treating Pompe disease Fig. 14.2

6. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning dsd.lbl.gov

7. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Use of reporter genes to monitor gene expression 1. lac Z - beta galactosidase enzyme from bacteria blue color when provided with appropriate substrate promoter of gene of interest lac Z gene Blue color anywhere that the gene is on

8. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Use of reporter genes to monitor gene expression 2. gfp gene from jellyfish Aequoria victoria fluoresces green when exposed to blue light can monitor gene expression in living animals many different variants now available - CFP/YFP/RFP etc promoter of gene of interest gfp gene Green color anywhere that the gene is on

9. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning gfp variants ‘art’ bacteria expressing different gfp variants From lab of Roger Tsien

10. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Using the GFP reporter gene.. Drosophila embryo Mouse C. elegans

11. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Biopharming Edible vaccines –Still in development Genetically modified foods –Transgenic crop plants with new characteristics Transgenic crops –Resistance to herbicides and disease Enhancement of nutritional value Concerns

12. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning A Foreign Gene is Transferred Fig. 14.3 Fig. 14.3a

13. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Plant Cells Grows and Divides; Embryos Develop Fig. 14.3b

14. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Genetically Engineered Plants Fig. 14.3

15. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Fig. 14.4 Transgenic Cotton (left) Modified to Resist Insects

16. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Transgenic Crops in U.S. (1996-2003) Fig. 14.5

17. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Genetically Modified Crops

18. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Enhancement of Nutritional Value Golden Rice Vitamin A deficiency is a serious health issue Modified the rice, a food staple Two genes from daffodils and one from bacteria were inserted into rice With added genes rice plants synthesize beta-carotene When the rice is eaten it is converted to Vitamin A

19. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Golden Rice Fig. 14.6

20. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning home.cc.umanitoba.ca transgenic for gene that slows ripening process The Flavr Savr tomato

21. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Concerns Transgenic crops have created controversy Safety issues Environmental issues

22. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Transgenic Models of Human Disease 90% of human genes are also present in the mouse Excellent model of human disease Transgenic models have several goals –Produce an animal with symptoms that mirror those in humans –Use the model to study the development and progress of the disease –Test treatments that hopefully will cure the model organisms of human disease

23. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Producing the Transgenic Model A copy of Human HD gene was cloned into a vector Vector carrying the HD gene was microinjected into the nucleus of a fertilized egg Injected eggs transplanted into a foster mother After pups were born tail tip DNA was analyzed for the presence and expression of HD gene

24. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning www.hopkinsmedicine.org Mouse model for huntington’s disease WTTransgenic mouse

25. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Animal Models for Human Diseases

26. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Prenatal Testing Can Diagnose Sickle Cell Anemia Mutation destroys cutting site for the enzyme MstII, producing fewer fragments Prenatal testing uses amniocentesis or CVS Embryo testing and polar body biopsy can be done Risks of testing Presymptomatic testing

27. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Sickle Cell Anemia Fig. 14.8

28. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning DNA Microarrays Screen for All Known Mutations Fig. 14.11

29. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning DNA Microarray after Hybridization Fig. 14.12

30. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Human p53 gene Fig. 14.13

31. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning DNA for Identification Technology developed in the 1980s Alec Jefferys and colleagues discovered variation in 14–100 base pair DNA sequences located at many different chromosomal sites called microsatellites A DNA fingerprint or profile of an individuals is produced by evaluating the variation in the microsatellites or shorter short tandem repeats (STR)

32. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning DNA Profiles Short tandem repeats (STRs) Short sequences ranging from 2–9 base pairs in length, for example: CC TTCCC TTCCC TTCCC TTCCC TTCCC TTC DNA profiles are based on variation in the copy number of DNA sequences DNA profile is unique to an individual or their monozygotic twin

33. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Variation in STR in Two Individuals

34. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Uses of DNA profiles Criminal investigations Identification of remains Identification of species Identifying family members Biohistorical information Paternity testing in humans and animals

35. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Probabilities in DNA Profiles

36. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Different Alleles of a STR Fig. 14.14

37. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Analyzing DNA Profiles Fig. 14.15

38. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning www.scq.ubc.ca

39. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

40. DNA fingerprinting using VNTRs

41. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Stem cells Saunders Magee Shriner-Cahn Chatterjee Lawrence Olson Prenatal genetic testing Brower Gorenkoff Kwak Cho Damiano Cheis Cloning of animals/humans Bondurant Lapides Simon Vigneron Prada Siegel Genetically modified plants/animals Powers Rosenblum Le Sotomil Coyle Kropp Too much technology? Spiwak Davidson Fei Grossman Marwell Roth Behavioral genes Seplowitz Rich Lenard Collins Dionne Rudberg April 26 May 2 April 30

42. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning Problem Set 5 Due on April 11 Term paper is due on Wednesday, May 9 by 5 pm (via email or paper)

43. Chapter 14 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning EXAM 2 Average - 60.5 High - 86 Low - 25 0 2 4 6 8 10 12 14 91-100 81-9071-8061-7051-6041-5031-40 <30 # 0 AB C Please see me if you got <35