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GeneTherapy
HumanHaveThreeGenomes
InheritedDiseasesAcquiredDiseasesDiseasesInteractedbyGeneandEnvironmentChromosomeDiseasesMultipleGeneDiseasesSingleGeneDiseasesMitochondrialDiseasesEpigeneticDiseasesTraumaSuffocateRadiationStarvationClassificationofDiseases
ChromosomalDisordersMorethan100types,mentalretardationandgrowingdevelopmentdelayingarecommoncharacteristics.Numericalabnormalitiesandstructureaberration3000typesAbnormalchromosomeinliveinfantis5%Abnormaltypes:aneuploid(Trisomy21,18,13),deletion,duplication,circularchoromosome,translocation,inversion,isochromosome
MonogeneticDisordersHereditarydeafnessα&βThalassemiaSickle-cellanemiaGlucose-6-phosphatedehydrogenasedeficiencyHemophiliaA,B,CFactorVdeficiencyFamilialhypercholesterolemiamorethan8000typesPointmutation:missense,nonsenseShiftingmutation:deletion,insertion,Region:Coding,regulation,splicing
FactorVIIIandHemophiliaA
Gaucher`sDiseaseGaucherdiseaseisthemostcommonoftheinheritedmetabolicdisorderknownaslipidstoragediseases.?Gaucherdiseaseiscausedbyadeficiencyoftheenzyme?glucocerebrosidase.?
MitochondriaDiseases?Maternalinheritance,morethan100typesdiseases1/6500Atleast350,000patientsinEuropeUSA:1/4,000lessthan10ys.4,000newbornpatients.Deafness,diabetes,Leberoptic-neuropathy
MultipleGeneticDiseasesAutism(90%),Schizophrenia(80%),Congenitalasthma(80%),CleftlipsandPalate(76%),JuvenileDiabetes(75%),Congenitaldislocationofthehip(70%),Coronaryheartdisease(65%),Hypertension(62%),Idiopathicepilepsy(57.4%),Congenitalheartdisease(55%).Cancers(Geneticandepigeneticschanges)Hydrocephalus(49.6%),Peptic(37%),Senilediabetes(35%).
Cancer
AutismSpectrumDisorders,ASDs1%populationAutismGenomeProject,AGP:2002,morethan50institutesand120scientistsallovertheworld.Susceptibilitygenes:124,NRXN1,MeCP2,CHD2,HDAC4,GDI1,SETD5,
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