Chapter Details

Chapter Code :  CH8sv 9781416030805

Chapter Title   :  Genetics of Common Disorders with Complex Inheritance

Book Title   :  Thompson & Thompson Genetics in Medicine, 7th edition (2007)


In this chapter, we fi rst address the question of how we determine that genes predispose to common diseases and, therefore, that these diseases are, at least in part, “genetic.” We describe how studies of familial aggregation, twin studies, and estimates of heritability are used by geneticists to quantify the relative contributions of genes and environment to diseases and clinically important physiological measures with complex inheritance. Second, we illustrate the general concept of gene-gene interaction, starting with one of the simplest examples, one in which modifi er genes affect the occurrence or severity of a mendelian disorder. We then give a few examples of more complicated multifactorial diseases in which knowledge of the alleles and loci that confer disease susceptibility is leading to an increased understanding of the mechanisms by which these alleles interact with each other or the environment to cause disease.



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