简介:Objective:Basedontheclinicalmanifestationsofahearinglosspatient,thePOU3F4genewastestedfordiagnosisofetiology.Methods:Acomprehensivephysicalexaminationwasperformedontheprobandtoexcludeabnormalitiesofotherorgans,anddetailedaudiologicaltestingandtemporalboneCTscanwerealsoperformed.GenomicDNAwasextractedusingtheproband’speripheralbloodleukocytes.Polymerasechainreactions(PCR)wereperformedinthecodingsequenceofthePOU3F4gene.DirectDNAsequencingwassubsequentlyappliedtoscreentheentirecodingregionofthePOU3F4gene.Results:Theprobandhadseveresensorineuralhearingloss.TemporalCTshowedbilateralcochlearincompletepartition,vestibuledysplasia,internalauditorycanalfundusexpansion,andcochlearinterlinkwiththeinternalauditorycanalfundus.Anovelmutation(c.530C>A(p.S177X))inthePOU3F4genewasfoundinthispatient,creatingannewstopcodonandwaspredictedtoresultinatruncatedproteinlackingnormalPOU3F4transcriptionfactorfunction.Conclusion:ThroughanalysisofthePOU3F4geneandclinicalmanifestationsinthepatient,weconcludethatanovelmutationmayhaveresultedinaprematurestopcodon,contributingtothemutationofPOU3F4gene.
简介:Luminescentpolystyrenemicrosphereswereeasilyfabricatedfrompoly(styrene-co-methacrylicacid)andaqueousRE(III)chloridesolution(RE=Eu,Tb)inthepresenceof2,20-bipyridineassecondligand.Thenegativechargesofcarboxylgroupsonthesurfaceofmicrospherescoordinatedwithrareearthionsatfirst,suchascomplexescovalentlylinkedto2,20-bipyridine,resultinginstrongphotoluminescence.Variousmethods,includingtransmissionelectronmicroscope(TEM),scanningelectronmicroscope(SEM),energydispersivespectroscopy(EDS),Fouriertransforminfraredspectroscopy(FT-IR),andfluorescencespectrophotometer,wereusedtocharacterizetheresultantpolystyrenecompositemicrospheres.Thisworkhighlightstheideathatitisfaciletosynthesisluminescentmicrospheresbysurface-modifiedmethoddirectly.