The Genome's Dark Matter

摘要

What we know about the fundamental laws of inher-itance began to take shape in a monastery gar-den in Moravia in the middle of the 19th century, when Gregor Mendel patiently cross-bred pea plants over the course of several years, separated the progeny according to their distinct traits, and figured out the mathe-matical foundations of modern genetics. Since the rediscovery of Mendel's work a century ago, the vocabulary of Mendelian inheritance-dominant genes, recessive genes, and ultimately our own era's notion of disease genes-has colored every bio-logical conversation about genetics. The message boils down to a single premise: your unique mix of physiological traits and disease risks (collectively known as your phenotype) can be read in the precise sequence of chemical bases, or letters, in your DNA (your genotype).