遗传病的分子和生化基础

ntributetotheindividualityofthecells根据蛋白质的功能分类?municationWewilldiscuss酶缺陷EnzymeDefectsExample:PKU,LysosomalstorageDisease(溶酶体贮积症)icDiseases遗传性酶病?HereditaryEnzymopathy由于基因的突变导致的蛋白酶变异造成的先天性代谢障碍。Theinbornerrorsofmetabolismiscausedbygenemutationwhichleadtoenzymeproteinvariants.SubstrateProductP’S’S’’P’’MutantEnzymeExamplesofHereditaryEnzymopathy疾病Phenylketonuria(PKU)Lesch-NyhansyndromeTay-haridoses•Huntersyndrome•Hurler/Scheiesyndrome•SanfilipposyndromeI-cellDiseaseHomocystinuria主要致病基因PAH,PhenylalaninehydroxylaseHprt,HypoxanthineguaninephosphoribosyltransferaseHexA,HexosaminidaseA•iduronate-2-sulphatase•α-L-iduronidase•α-D-N-AcetylglucosaminidaseN-acetylglucosaminyl-1-phosphotransferaseCystathioninesynthase苯丙酮尿症Phenylketonuria(PKU)Phenylketonuria(PKU)Phenylketonuria(PKU)云南一家两个PKU一家两个PKU失察但接受治疗