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The Human Genome

The Human Genome - A Topic The Human Genome o Develop basic...

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August 12, 2010 Topic: The Human Genome o Develop basic grasp of fundamental concepts in genomics o Know the sources and extent of individual variability in genetics o Understand how genes can be linked to diseases An Evolution of understanding: o Ancient Times: inheritance of disease risk o 20 th Century: behavioral genetics o 21 st Century: genomic medicine Language of Life: o DNA is a recipe for building and operating an organism o Patterns of 4 nucleotides contain all the necessary information o Does size matter? o Bacteria: 3 million base pairs o Humans: 3.1 billion base pairs o Whisk Fern: 300 billion base pairs o About 100 trillion pairs containing: o 2 pairs of 23 chromosomes o 25,000 genes o Every cell contains all genetic information, but each expresses these genes differently DNA Cryptography: o Highly elaborate message in deceptively simple code o Exponential rate of decoding o Human genome, plus hundreds more o DNA RNA = transcription o RNA Protein = translation (work horses of the body) o A “typical” human gene: o Exon (coding) o Intron (non-coding) One gene does NOT equal one protein: C.A.U.R.E.T can make: o Car
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o Cat o Rat o Cure Differences: o .4% of genome varies between people o Sources of genetic variability (polymorphisms) o SNP (single nucleotide): G A May themselves increase or decrease the activity of product (gene/protein) May be linked to sequence changes of functional significance May be silent SNPs identify a specific location on a specific chromosome Can be used to find genes that influence a phenotype o
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