第八章 人类疾病的生化与分子遗传学(Biochemical Genetics)

生物化学是研究体内各个生理反应的化学本质；遗传学是研究遗传与变异，是通过变异来研究遗传；而生化遗传是研究人体内的各种生物化学变异及其生理学结果。
The Early Landmark Events: Inborn errors of metabolism,
研究开始的病例：先天性的代谢缺陷（Inborn errors of metabolism）-尿黑酸尿（Alkaptonuria）
One gene – one enzyme, One gene – one polypeptide(一个基因，一个酶的理论 一个基因，一个多肽的理论)One gene controls the production of one enzyme, set forth by Beadle and Tatum . Later it has given way to one gene-one polypeptide because of the study of human mutations in intermediary metabolism
Basic Principles:
Proteins function at every step of metabolic processes,Genes control protein synthesis,Genetic control of metabolic processes introduces human variation ,Sometimes that variation results in susceptibility to disease, Sometimes that variation is disease.
    突变的基因通过改变多肽链的质和量，引起疾病，根据缺陷蛋白对机体所产生的影响不同，把这类疾病分为:分子病, 遗传性酶病

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