Transcript Introduction to Genetics

Groups for Genetics
Group #1
DeCoste, Victoria
MacDonald, 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 #3
Bernas, Alex
MacDonald, Brittany
Williams, Kailyn
Baisley, Ashley
Burns, Laura
Stevenson, Mason
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
Group #6
Gillis, Kenzie
Fraser, Kayla
Davis, Savannah
Gillis, Heather
MacAulay, Alyssa
Piché, Angela
Group #9
Burke, Carrie
MacDougall, Abbey
Berry, Rachel
McLellan, Bailey
Corcoran, Courtney
Livingstone, Annie
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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
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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
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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
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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
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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
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MAPPING THE HUMAN GENOME
• https://public.ornl.gov/site/gallery/highres/Ge
nomePoster2009.pdf
• http://web.ornl.gov/sci/techresources/Human
_Genome/posters/chromosome/
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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?
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#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?
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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?
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#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?
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Mapping the Human Genome
Chromosome 15
• Marfan Syndrome
• Mutation on Chromosome 15
• Dominant pattern of inheritance
• http://www.yourgenesyourhealth.org/marfan/whatisit.htm
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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-andResources/Genetics-Fact-Sheets
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Examples of Genetic
Conditions & Diseases
Condition
Pattern of
Inheritance
Affected
Gene(s)
Symptoms &
Incidence
Testing &
Screening
Fragile X
Syndrome
Cystic Fibrosis
D / B Muscular
Dystrophy
Down
Syndrome
Alzheimer
Disease:
Sporadic
Familial
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Class notes continued on slides
for January 13th
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