genetics introduction.ppt
TRANSCRIPT
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Biology2CO3 / MolBiol 2C03
Genetics
Instructor:Dr. Kimberley Dej
Instructional Assistant:
Dr. Mihaela GeorgescuLSB [email protected]
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Tutorials begin next week!
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Midterm 35%
Tutorial quizzes 6%Participation 2%
Tutorial assignments 17%
Exam 40%
Evaluation:
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Requests for Relief for Missed Academic Term Work
Students may report absences lasting up to 5 days by usingthe McMaster Student Absence Form (MSAF) on-line, self-reporting tool, in order to request relief for missed academicwork.
Students may use this tool ONCE for relief of missedacademic work per term.
Please list Mihaela Georgescu ([email protected]) as the
contact for the MSAF. Immediately after using the online tool,students MUST contact Mihaela Georgescu([email protected]) regarding the nature of the relief.Failure to do so may negate the opportunity for relief.
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Requests for Relief for Missed Academic Term Work
If you miss the midterm test, you must write a makeup test.The makeup test will be of a different format from the originaltest, but will cover the same material.
If you miss a tutorial, the first time you do not need an MSAF.Please contact Mihaela Georgescu ([email protected])and arrange to attend another tutorial that week so that you donot miss the quiz. If you miss a tutorial, you will get zero onthat quiz.
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What is a gene?
A gene is a locatable region of a genomicsequence corresponding to a unit of inheritancewhich is associated with regulatory regions,transcribed regions, and/or other functional
sequence regions
A gene is a union of genomic sequences encodinga coherent set of potentially overlapping functional
products
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What is a genome?
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Inside DNA
Fundamentalprinciples ofinheritance
Principles ofmoleculargenetics
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Inside DNA
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Inside DNA Sequenced genomes:4000 prokaryotes
200 eukaryotes
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2001 : human genome sequencing (cost? 3 billion)
2007 : sequencing of the genome of J.Watson(cost? $1million, 2 months)
2013 : goal = individual genomes sequenced for $1000
Are we there?
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Scientific American (Ast, 2005)
What information is in a sequenced genome?
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What information is in a sequenced genome?
2004 : HG analysis:
3 billion base pairs estimated 23,000 protein-coding genes 96 to 98.5% of genome is NOT protein-coding
If genome sequences arenot protein coding, whatare they there for?
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2012 : at least 80 percent of the genome isbiologically active, with much non-protein-codingDNA regulating nearby genes in a complex dance ofinfluence.
ENCODE(ENCyclopedia Of DNA Elements)
What information is in a sequenced genome?
What does this mean?
Regulatory sequences are essential parts of genes.
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Genetics: hereditary basis of traitsOld: genetic mutations as the cause of disease
New: genetic variation that influences human traitsTraits and diseases are polygenic (influenced by manygenes) and important nucleotide changes occur in non-coding sequences.
Era of personalized medicine.
Limits to genetic information? What is the influence of
environment, epigenetics.