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By Peter S. Harper

An eminent geneticist, veteran writer, OMMG sequence Editor, and famous archivist, Peter Harper offers a full of life account of ways our principles and data approximately human genetics have built during the last century from the point of view of somebody contained in the box with a deep curiosity in its old features. Dr. Harper has researched the heritage of genetics and has had own touch with a number of key figures whose stories and reviews expand again 50 years, and he has interviewed and recorded conversations with a lot of those very important geneticists. hence, instead of being a standard heritage, this ebook transmits the essence of the information and the folks concerned and the way they interacted in advancing- and infrequently retarding- the sphere. From the origins of human genetics; in the course of the contributions of Darwin, Mendel, and different giants; the identity of the 1st human chromosome abnormalities; and up throughout the of completion of the Human Genome venture, this Short History is written within the author's attribute transparent and private type, which appeals to geneticists and to all these drawn to the tale of human genetics.

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S. family. (A) The initial description in New England Journal of Medicine (Hay, 1813). (B) The pedigree as extended by McKusick and Rapaport (1962). Courtesy of Oxford University Press. FIGURE 23 24 THE FOUNDATIONS OF HUMAN AND MEDICAL GENETICS (A) (B) F I G U R E 1–6 Duchenne muscular dystrophy: studies of Duchenne de Boulogne showing the value of careful clinical and histological illustrations. (A) Case 68 from Duchenne (1861). (B) Muscle histology from Duchenne (1868). ) Royal Maladies There have been several striking instances of serious inherited disorders among the royal families of Europe, not to mention minor anatomical variants such as the “Habsburg jaw” (Chudley, 1998).

Despite the pitfalls of this approach, it has on the whole been productive, and it has been strikingly reinforced by modern molecular discoveries showing how little many genes have changed over the millennia. I suspect that it has also played a valuable role in keeping medical geneticists in close contact with basic scientists working on experimental species such as the mouse and Drosophila. Science historians might find this an interesting topic to analyze further. Early Concepts of Heredity It is not surprising that questions surrounding human heredity were debated from the earliest times, even though it was not until the 17th century that a truly scientific approach began to be taken.

Slightly later came Erasmus Darwin, a physician working in England, and Jean-Baptiste Lamarck, in Paris, who both published their ideas around the turn of the 19th century, just as the window of tolerance in thought was about to close for another half-century. Pierre Louis de Maupertuis Maupertuis (Fig. 1−10) was a wide-ranging mathematical and scientific philosopher; his overall work and genetic contributions were well described by the distinguished geneticist and historian Bentley Glass, in 1947.

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