§4基因突变的分子eng(3253KB).pptVIP

(6)Protein stability Tay-Sachs病(神经节苷脂GM2积聚) 2 Effect of Protein Function induced by Gene Mutation Loss-of-function Gain-of-function Novel property mutation 凝血因子Ⅷ缺乏 Hemophilia A Loss-of-function Gain-of-function Novel property mutation Von willebrand 病，vWF与血小板结合的功能加强，不易从血小板上分离，患者损伤时，带有vWF的血小板的凝血作用减弱。 Loss-of-function Gain-of-function Novel property mutation Dominant negative effect 甘氨酸 Heterochronic gene expression / ectopic gene expression 突变对蛋白功能的效应 3 The relationship between the site of a protein’s expression and the site of disease Housekeeping proteins, which are present in virtuall