熒光原位雜交技術(shù)在檢測(cè)多發(fā)性骨髓瘤患者13號(hào)染色體部分缺失中的應(yīng)用.pdf

1、山西醫(yī)科大學(xué)碩士學(xué)位論文熒光原位雜交技術(shù)在檢測(cè)多發(fā)性骨髓瘤患者13號(hào)染色體部分缺失中的應(yīng)用姓名：解菊芬申請(qǐng)學(xué)位級(jí)別：碩士專業(yè)：血液內(nèi)科指導(dǎo)教師：周永安20090316山西醫(yī)科大學(xué)碩士學(xué)位論文Utilityoffluorescenceinsituhybridizationinthepartialdeletionofchromosome13inmultiplemyelomaAbstractObiective：Conventionalchro

2、mosomewasusedtodetectabnormalkarytotypefromthebonemarrowofmultiplemyelomapatients；analysisofthedeletionchromosomel3inMMpatientsatdiagnosiswereperformedwithFISHtechniqueClinicalsignificanceofFISHdefinedpartialdeletionchro

3、mosome13inMMpatientswereinvestigatedMethods：RHGbandingwasusedtostudythecommoncytogeneticchangesinbonemalTOWSof17preliminarydiagnosisMMpatientsOtherprimarylaboratoryexaminationandclinicalsituationofthosepatientswithabnorm

4、alkarytotypewereobserved；fluorescenceinsituhybridization(FISH)wasperformedonbonemarrowfrom38patientswithMM(includingthe17MMpatientswhohavealreadybeenexaminedbycc)tostudythedeletionofRb一1geneandlocus13q143onchromosome13Fi

5、sherexactpropabilityWasusedtostudytherelationsbetweenpartialdeletionofchromosomel3andclinicalfeaturesResults：(1)Conventionalchromosomeshowedthat3casewerefailedbecausethebonemarrowpreparegrume，2cases(NO2，5)withcomplexabno

6、rmalkarytotype，involvingquantityandstructuralchangesofmultitudestripschromosomeNO5withthedel(13q)，BothofthetwocaseswithabnormalkarytotypewereDurie&SalmonIIIstage，therateofbonemarrowplasmablastcellishigh(57％，44％)，bloodser

7、uml32microglobulinsignificanthigh(78mg／lII2mg／1)Thecontrolgroupwereprovenormalkarytotype(2)20outofthe38caseswerefoundwithdeletionofchromosome13；deletionofRb—lgenewerefoundin18cases；deletionoflocus13q143werefoundin16outof

8、38cases；bothofthedeletionsare14Inthose17preliminarydiagnosisMMpatients，5caseswithdel(13q)，NO5wasprovedbyFISHusingprobesspecificforRb—lgene，furthermoreconsistinglcasewhoseCCwasfailureFisherexactpropabilityshowedthatdeleti

9、onofchromosome13wasassociatedwithhypsoserumlacticdehydrogenase，hypsoserump2macroglobulinlevel，lowserum—albuminthehighrateofbonemarrowplasmablastcellConclusion：(1)ComplexkaryotypealecommonchangesinMMpatientsandoftenaredet