兒童型脊髓性肌萎縮癥的基因診斷.pdf

1、南昌大學(xué)醫(yī)學(xué)院碩士學(xué)位論文兒童型脊髓性肌萎縮癥的基因診斷姓名：王蕊艷申請學(xué)位級別：碩士專業(yè)：兒科學(xué)指導(dǎo)教師：蔡蘭云20070528AbstractABSTRACTObjective：ToassessthediagnosticvalueofPolymerasechainreaction—Restrictionfragmentlengthpolymorphisminchildrenwithspinalmuscularatrophyandan

2、alyzetherelationbetweentelomericportionofsurvivalmotorneurongeneexpressionandthetypesofSMAintermsofclinicalMethods：Twentythreechildrenwithsuspicionofspinalmuscularatrophyintermsofclinicalfeaturesweresimultaneouslydiagnos

3、edbygoldstandardandPCR—RFLETheresultsfromtwomethodswerecomparedbythesensitivityspecificityKappaandprobabilityResult：Oftotally23casesenrolledinthisstudythe18casesofSMAand5casesofnonSMAwerediagnosedbythegoldstandardHowever

4、theSMNtnodeletionin5casesofnonSMA；theSMNthomologousdeletionof15casesandnodeletionof8casesin18casesofSMAWasdetectedbyPCRRFLPthetotaldeletionrateofSMNtgeneWas833％；thedeletionratesofexon7，8andbotllwererespectively722％，778％a

5、nd667％Comparedwiththegoldstandard，thesensitivityofPCR—RFLPWas833％，specificityWas100％，thepositivepredictivevalueWas100％，negativepredictivevalueWas625％，validityWas8696％，andtheKappavalueWas0685ThedetectionofSiNtgenedeletion

6、showedthattheSMNtdeletionofbothexon7and8accountedfor889％intypeISMA，667％intypeIISMAand0intypeIIISMAOnthecontrarytheSMNtdeletionrateofonlyexon7or8WashighestintypeIII，andthedeletionrateofexon8andbothexon7and8intypeISMAwashi

7、gherthantypeIIISMA(P005)，buttherewerenosignificantdifferencesindeletionrateofexon7amongthreetypesofSMAConclusion：PCRRFLPwasasimple，rapidandtime—savingdiagnosticmethodforSMA，anditwassensitiveandspecific，whichwasworthpopul