137+introduction

137+introduction - A Road Map to Human (and Eukaryotic)...

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©jlmarsh 2006 1 A Road Map to Human (and Eukaryotic) Genetics D137 JL Marsh Introduction Human genetics: What are the issues? If we accept that almost everything in biology is driven by genetics or the response of our genetic make up to environmental input, then genetics is central to understanding and perhaps manipulating biology. Some of the major issues in genetics are the following: 1- How can we determine if a problem is genetic? For example, is muscular dystrophy genetic, hemophilia, alcoholism, autism, violent behavior, learning difficulties, ADHD (Attention Deficit Hyperactivity Disorder) etc. 2- If we suspect that something is genetically based, how can we find what genes are responsible for the trait? This will involve mapping genes and finally proving that a given functional trait is caused by a physically identifiable gene (or genes). 3- If we can identify a gene or genes, how can we diagnose or predict the trait? For example, can we use DNA finger printing to help make informed clinical decisions about a particular pregnancy? 4- Can identification of the responsible gene provide clues to the underlying biochemistry and pathophysiology that is causing disease and provide some clues as to how we might treat it? For example, can knowing that a genetic predisposition to violent behavior in a particular family was caused by a lack of the enzyme, monoamine oxidase allow us to design a potentially therapeutic strategy? There are other issues in human genetics today including ethical and medical issues but many of them stem from the issues listed above. Why care? (other than for a grade in this class?) Why should someone care about understanding the basic principles of human genetics and the methods of analysis? 1- If you ever decide to have a family, you will have personal decisions to make that are best made by informed consumers (you will be the consumer of medical advice). For example, should you have an amniocentesis and what can it tell you and what can it not tell you? Should you decide to have preimplantation genetic diagnosis (PGD)? This is being advertised by some
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137+introduction - A Road Map to Human (and Eukaryotic)...

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