遗传学教学课件：Chapter 12 遗传病的分子和生化基础.pptVIP

“Soon there will be no disease called breast cancer,” says Draghia-Akli. Instead, the catch-all term will be replaced by “a large number of rare diseases, each of which causes malignant growth in breast tissue and requires individual treatment”. 罕见病并非是常见病对立的概念，而是常见病研究发展出来的概念，是个体化医疗的基础。 Chapter 12 Housekeeping proteins; Specialty proteins Enzyme Defects Phenylketonuria (PKU), phenylalanine hydroxylase gene (PAH) Therapy:Dietary reduction of phenylalanine; Newborn screening lesch-Nyhan syndrome: Defect in purine metabolism Hprt, Hypoxanthine guanine phosphoribosyltransfe