of Mutation and Polymorphism



Impact of Mutation and Polymorphism



Thus a striking degree of biochemical individuality exists within the human species in its makeup of enzymes and other gene products. Furthermore, because the products of many of the encoded biochemical and regulatory pathways interact in functional and physiological networks, one may plausibly conclude that each individual, regardless of his or her state of health, has a unique, genetically determined chemical makeup and thus responds in a unique manner to environmental, dietary, and pharmacological influences. This concept of chemical individuality, first put forward over a century ago by Garrod, the remarkably prescient British physician introduced in Chapter 1, remains true today. The broad question of what is normal—an essential concept in human biology and in clinical medicine—remains very much an open one when it comes to the human genome.


The following chapters will explore this concept in detail, first in the context of genome and chromosome mutations (Chapters 5 and 6) and then in terms of gene mutations and polymorphisms that determine the inheritance of genetic disease (Chapter 7) and influence its likelihood in families and populations (Chapters 8 and 9).

Only gold members can continue reading. Log In or Register to continue

Nov 27, 2016 | Posted by in GENERAL & FAMILY MEDICINE | Comments Off on of Mutation and Polymorphism
Premium Wordpress Themes by UFO Themes
%d bloggers like this: