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Genetics and Health Jennifer Eyvindson Epi 6181 November 2006 Points to cover Basic Genetics Heredity Replication Translation Mutations Genetics and Health Cancer Genes, behaviour, & social environment Tools to develop 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-dominance AA Aa aa The basics Chromosomes Condensed DNA Located in Nucleus DNA Blueprint The Double Helix Watson and Crick (1953) 2 Strands of DNA Hydrogen bonds Overview – Genetic processes Replication (DNA DNA) Transcription (DNA RNA) Translation (RNA Protein ) DNA Replication DNA must be copied before every cell division Translation (protein synthesis) 1. Ribosome binds to DNA 2. tRNA binds to mRNARibosome complex and brings Amino Acid 3. Amino Acid chain elongation 4. Protein These Molecular Processes are highly regulated: Promoters Inducers Repressors *Environment Influence Protein Functions Structure & Mechanics Cell Structure Transport Enzymes Catalyze chemical reactions Signalers Hormones Receptors When things go wrong DNA Deletion Insertion Point mutation PROTEIN Non-sense (STOP) Mis-sence Silent 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 of more than one gene Gradients Complex interactions not well understood Genetics and Health Inherited Disorders Allele (Huntington's) X-linked (Hemophilia) Other predispositions Allele variants (Addictions, Depression, Cancer…etc) Errors Cancers Chromosomal abnormalities (Down syndrome) 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 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, thereby the social environment Inherited traits predispose individuals to act in certain ways Tools to develop Bio Technology Informatics Look at multiple genes, proteins Keep track of 30 000 genes and their interactions Laws and Ethics Genetic profiles ???