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1、GeneticDisorders(InheritedDiseases)ZouXiao-bingDepartmentofPediatrics3rdAffiliatedHospitalSunYat-senUniversityGreatchangesinmedicineoneofthebiggestvictoriesinmedicineoverthepast100yearsisthatinfectiousdiseaseshavedecreaseddramatically,forexample,smallpoxwaseradicated,poliomyeliti
2、swillsoonbeeradicatedandpertusis,diphtheria,malaria,measlesarediminishingThereasonsofthechangesinmedicineSocialprogressplannedimmunizationAdvancesinmedicalsciencesbetternutritiongeneticdisordersareincreasingAgeneticdisorderisanillnesscausedbyabnormalitiesingenesorchromosomes.Whil
3、esomediseases,suchascancer,aredueinparttoageneticdisorders,theycanalsobecausedbyenvironmentalfactors.ReasonsEnvironmentpollutioncausedbydevelopment:mutagenicsubstancescomefromindustrialwastes,nuclearwastesandmodernhumanlife,drugabusesuchastheuseofthalidomide.Improveddiagnostictec
4、hniquesincludebiochemicaltechniques,cytogenetictechniquesandmoreimportant,moleculargenetictechniques.EpidemiologyofgeneticdisordersinChinaItisestimatedthat,eachyearinChina,thereare20,000,000livebirthneonates.5%ofthemwillsufferfrominheriteddisordersorbirthdefects.itmeansthateachye
5、arthereare1,000,000newpatients.Over10,000kindofinheriteddiseasesarefoundbynow.BasicofgeneticsCellisthebasicunitofhumanbody.Chromosomeisthecarrierofinheritanceandgene.Normalcellcontain23pairschromosomes,withabout30,000structuralgenesBasicofgeneticschromosomesexistinpair,sogenesexi
6、stinpair.Pairedgenescouldbedividedintodominantgeneandrecessivegene.traitsarecontrolledbythegenesOnegeneoneenzymetheorytheabnormalchromosomesandgenesresultingeneticdisorders.ClassificationofgeneticdisordersChromosomalabnormalities:includingeuploid,21trisomy,45,XO(turnersyndrome)an
7、dstructureabnormalsuchas5P-and14ring.GenediseasesincludingsinglegenediseasessuchasPKUandpolygenicdiseasessuchasdiabetes.ClassificationofgeneticdisordersChromosomediseases:quantityorstructureofchromosomeisabnormalautosomalchromosomediseasessex-linkedchromosomediseasesGenediseasess
8、inglegeneinheriteddiseases(mendelmodel)p
