Groups for Genetics Group 1 De Coste Victoria

Groups for Genetics Group #1 De. Coste, Victoria Mac. Donald, Mary Denaro, Chelsea Sibley, Nicole Allen, Jasmine Croft, Lauren Mombourquette, Shelbie Group #4 Roach, Christian Downey, Erica Carroll, Kathleen Myers, Jamie Festeryga, Deirdre Mattie, Joni Group #7 Maciel, Analiese Smith, Shannalee Murphy, Jillian Taylor, Emma Hughes, Tanner Redden, Julie Group #2 Gillis, Carly Douglas, Patti Visentin, Christina Smith, Jennifer Downing, Allison Thompson, Mary Catherine Group #5 Savary, Murphy Smith, Maggie Schofield, Katelyn Gougeon, Felipe Gillis, Erin Clarke, Lauren Group #8 Poirier, Baillie Hum, Katherine Johnson, Christeen Eisan, Brianna Hingston, Olivia Cunningham, Cassy 300/330 - appleby Group #3 Bernas, Alex Mac. Donald, Brittany Williams, Kailyn Baisley, Ashley Burns, Laura Stevenson, Mason Group #6 Gillis, Kenzie Fraser, Kayla Davis, Savannah Gillis, Heather Mac. Aulay, Alyssa Piché, Angela Group #9 Burke, Carrie Mac. Dougall, Abbey Berry, Rachel Mc. Lellan, Bailey Corcoran, Courtney Livingstone, Annie 1

Introduction to Genetics Rels 300 / Nurs 330 6 January 2016

BASICS OF GENETICS VIDEO by David Murawsky, Stem Cell Network http: //vimeo. com/20898800 CELLS: • fundamental working units • 100 trillion cells in human body • all but the blood cells & reproductive cells contain entire human genome 300/330 - appleby 3

Chromosomes • 23 pairs of chromosomes • 1 out of each pair comes from maternal ovum • 1 out of each pair comes from paternal sperm • 22 are matched pairs • x and y are sex chromosomes • males have 1 x and 1 y • females have 2 x’s • each chromosome contains DNA for thousands of individual genes 300/330 - appleby 4

DNA (deoxyribonucleic acid) • 4 chemical bases – – • • adenine (A) thymine (T) guanine (G) cytosine (C) A pairs with T G pairs with C carry genetic information tightly coiled double strands of DNA 300/330 - appleby 5

Genome – VIDEO http: //vimeo. com/28957658 • organism’s complete set of DNA • smallest organism - a bacterium - contains about 600, 000 DNA base pairs • both human and mouse genomes have about 3 billion DNA base pairs 300/330 - appleby 6

Human Genome Recommended Resources Human Genome Project Information Archive 1990 -2003 • http: //web. ornl. gov/sci/techresources/Human_Genome/project/index. s html National Human Genome Research Institute • http: //www. genome. gov/; http: //www. genome. gov/10002077 Genome Canada (Atlantic) http: //www. genomeatlantic. ca/; http: //genomeatlantic. ca/our-industries-human-health/ Your Genes, Your Health, http: //www. ygyh. org/ Health Centre for Genetics Education (NSW, Australia) • http: //www. genetics. edu. au/; http: //www. genetics. edu. au/Publicationsand-Resources/Genetics-Fact-Sheets 300/330 - appleby 7

MAPPING THE HUMAN GENOME • https: //public. ornl. gov/site/gallery/highres/Ge nome. Poster 2009. pdf • http: //web. ornl. gov/sci/techresources/Human _Genome/posters/chromosome/ 300/330 - appleby 8

What issues are of particular concern to bioethicists? #1. Genetic Testing • Should people be encouraged to investigate their family genetic status with respect to known illnesses? • Should people be free to decline genetic testing for themselves? • Do family members have a duty to seek genetic testing to assist other family members with evaluating potential risks for genetic diseases? 300/330 - appleby 9

#2. Prenatal Genetic Testing • Should pregnant women be encouraged to have prenatal genetic testing? • Should only some pregnant women be offered or compelled to seek prenatal genetic testing? • In making reproductive decisions, do potential parents have a duty to decrease the burden of illness in society? 300/330 - appleby 10

To Know, or Not To Know? #3. Presymptomatic Testing • In families where there is a history of genetic disease, should family members seek genetic testing prior to becoming symptomatic? • What are the potential benefits of presymptomatic genetic testing? • What are some of the risks or harms of presymptomatic genetic testing? 300/330 - appleby 11

#4. Genetic Discrimination • Are there regulations or policies to prevent discrimination in employment on the basis of genetic information? • Are there regulations or policies to prevent insurance companies from refusing to insure people on the basis of genetic risk? 300/330 - appleby 12

Mapping the Human Genome Chromosome 15 • Marfan Syndrome • Mutation on Chromosome 15 • Dominant pattern of inheritance • http: //www. yourgenesyourhealth. org/marfan/whatisit. htm 300/330 - appleby 13

Check out this link: http: //www. ygyh. org/ Your Genes Your Health • Choose a genetic disease or condition from the links on the next page • become “experts” on it for the class • research its diagnosis, symptoms, age of onset, gender of victims Genetic knowledge: • inheritance patterns? • location? • treatments? • future potential for correction, treatment or prevention? For more info: http: //www. genetics. edu. au/Publications-and. Resources/Genetics-Fact-Sheets 300/330 - appleby 14

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Examples of Genetic Conditions & Diseases Condition Pattern of Inheritance Affected Gene(s) Symptoms & Incidence Testing & Screening Familial Fragile X Syndrome Cystic Fibrosis D / B Muscular Dystrophy Down Syndrome Alzheimer Disease: Sporadic 300/330 - appleby 16

Class notes continued on slides for January 13 th 300/330 - appleby 17