genetics and health jennifer eyvindson
TRANSCRIPT
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Genetics and Health
Jennifer EyvindsonEpi 6181 November 2006
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Points to cover
Basic Genetics Heredity Replication Translation Mutations
Genetics and Health Cancer Genes, behaviour, & social environment Tools to develop
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Heredity
Allele – a particular form of a gene
We have 2 copies of each gene Homozygous – 2 copies of same allele
Heterozygous – 2 different alleles
Dominant (A) vs. Recessive (a)
Incomplete Dominance
Co-dominanceAA Aa aa
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The basics
Chromosomes Condensed DNA Located in Nucleus
DNA Blueprint
The Double Helix Watson and Crick (1953)
2 Strands of DNA Hydrogen bonds
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Overview – Genetic processes
Transcription (DNA RNA)
Translation (RNA Protein )
Replication (DNA DNA)
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DNA Replication
DNA must be copied before every cell division
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Translation (protein synthesis)
1. Ribosome binds to DNA2. tRNA binds to mRNA-
Ribosome complex and brings Amino Acid
3. Amino Acid chain elongation4. Protein
These Molecular Processes are Highly regulated:
PromotersInducersRepressors
*Environment Influence
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Protein Functions Structure & Mechanics
Cell Structure
Transport
Enzymes Catalyze chemical reactions
Signalers Hormones
Receptors
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When things go wrong
DNA Deletion Insertion Point mutationPROTEIN Non-sense (STOP) Mis-sence Silent
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It’s not that simple…
Human Genome Project (April 2003) map and sequence 3 billion DNA base pairs
containing an estimated 30,000 genes 97% Non-coding “JUNK” DNA
Polygenetic Inheritance Most traits result from expression more than
one gene Gradients Complex interaction not well understood
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Genetic and Health Inherited
Disorders Allele (Huntington's) X-linked (hemophilia)
Other predispositions Allele variants (Addictions, Depression, Cancer…
etc)
Errors Cancers Chromosomal Abnormalities (Down’s syndrome)
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The Genetics of Cancer
Tumours are the result of multiple mutations
Mutations can be inherited or de novo Genetic Loss
Regulatory Apoptosis (Cell self destruct mechanism) DNA repair
Genetic Gain Cell Cycle progression Apoptosis inhibitors
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Genes, Behaviour, and the Social Environment
Top Down Social factors influence genetics
environmental mutagens lead to DNA mutations and cancer
Environment regulates gene expression
Bottom up Genetics influence behaviors, social
environment Inherited traits predispose individuals
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Tools to develop
Bio Technology Look at multiple genes, proteins,
Informatics Keep track of 30 000 genes and their
interactions
Laws and Ethics Genetics profiles ???