Abstract
In 2001, simultaneous publications by the commercial and academic arms of the international effort to determine the sequence of the human genome changed our understanding of human genetics for ever.1,2 Previous estimates indicated that human development and function relied on the products of about 100,000 genes located in a string of 3 billion nucleotides. The Human Genome Project (HGP) showed there were only 30– 35,000 individual genes. The long-held belief that one gene coded for one protein was also proven incorrect. Some genes produced parts of more than one protein. Through a process called alternative splicing,3 over 100,000 proteins are produced from this smaller number of genes. While studies of individual genes had found many with hundreds of mutations, it was now clear that the genome contained many millions of single nucleotide polymorphisms (SNPs), many of which could lead to disease. Furthermore, it was becoming apparent that most disease resulted from the interaction of several mutations, both inherited and acquired.
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© 2006 Palgrave Macmillan, a division of Macmillan Publishers Limited
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Lowden, J.A. (2006). Underwriting Genetic Diseases. In: Brackenridge, R.D.C., Croxson, R.S., MacKenzie, R. (eds) Brackenridge’s Medical Selection of Life Risks. Palgrave Macmillan, London. https://doi.org/10.1007/978-1-349-56632-7_6
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DOI: https://doi.org/10.1007/978-1-349-56632-7_6
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