简介：目的:检测白塞氏病(BD)患者和正常人群血浆中微小核糖核酸(microRNA,miRNA)的差异表达谱,探讨miRNA在BD发病中的作用,寻找与BD相关的血浆生物标记物。方法:收集15例活动期BD患者和15例正常人的抗凝静脉血,离心获得血浆,提取总RNA,经miRNA标记、miRNA阵列杂交、miRNA阵列扫描和分析获得BD患者异常表达的miRNA谱。通过miRTarBase(靶基因数据库)检索差异性表达的miRNA已经过验证的靶基因,并选取与免疫学相关的差异性表达的miRNA进行Realtime-PCR验证。结果:活动期BD患者血浆中hsa-miR-34c-5p、hsa-miR-144-3p、hsa-miR-483-3p较正常人表达上调,hsa-miR-301a-3p、hsa-miR-224-5p、hsa-miR-454-3p、hsa-miR-17-5p、hsa-miR-199a-5p较正常人表达下调。结论:miRNA的差异性在BD的发生发展过程发挥重要作用,异常表达的miRNA可能通过Notch1和SMAD4信号通路促进BD发病。

简介：目的:利用DNA探针杂交技术,结合显色探针技术建立一种新型、高灵敏的免疫检测体系,用于早期先天性白内障的筛查。方法:选取3个常染色体显性遗传的先天性白内障家系中患者14例,取静脉血并提取mRNA,建立CRYAB的捕获探针及显色探针。利用DNA探针,通过碱基配对原则形成三明治结构(捕获探针-DNA探针-显色探针)检测入选者的血样。1家系6例患者静脉血利用酶联免疫吸附测定(ELISA)法检测琢B-晶状体蛋白。结果:最佳条件下,双特异探针技术可检测到最低浓度的先天性白内障晶状体蛋白的突变基因,各突变位点检测率为99.5%~99.7%;ELISA法检测样本琢B-晶状体蛋白上调,阳性率为85.9%。双特异探针技术敏感性更高,检测位点更多,ELISA法仅局限于蛋白检测水平,精确性不高。结论:双特异探针检测技术操作简单,灵敏度高,可重复性高,经济实惠,在临床上用于产前诊断、优生优育具有重要的应用价值。

简介：AIM:Todescribethecharacteristicsofmodulationtransferfunction(MTF)ofanteriorcornealsurface,andobtainthethenormalreferencerangeofMTFatdifferentspatialfrequenciesandopticalzonesoftheanteriorcornealsurfaceinmyopes.·METHODS:Fourhundredeyesfrom200patientswereexaminedunderSIRIUScornealtopographysystem.PhoenisanalysissoftwarewasappliedtosimulatetheMTFcurvesofanteriorcornealsurfaceatverticalandhorizontalmeridiansatthe3,4,5,6,7mmopticalzonesofcornea.TheMTFvaluesatspatialfrequenciesof5,10,15,20,25,30,35,40,45,50,55and60cycles/degree(c/d)wereselected.·RESULTS:TheMTFcurveofanteriorcornealsurfacedecreasedrapidlyfromlowtointermediatefrequency(0-15cpd)atvariousopticalzonesofcornea,thevaluedecreasedto0slowlyathigherfrequency(>15cpd).Withtheincreaseoftheopticalzonesofcornea,MTFcurvedecreasedgradually.3)Intherangeof3mm-6mmopticalzonesofthecornea,theMTFvaluesmeasuredathorizontalmeridianweregreaterthanthecorrespondingvaluesathorizontalmeridianofeachspatialfrequency,thedifferencewasstatisticallysignificant(P<0.05).At7mmopticalzonesofcornea,theMTFvaluesmeasuredathorizontalmeridianwerelessthanthecorrespondingvaluesatverticalmeridianat10-60spatialfrequencies(cpd),andthedifferencewasstatisticallysignificantin25,30,35,40,45,50cpd(P<0.05).·CONCLUSION:MTFcanbeusedtodescribetheimagingqualityofopticalsystemsatanteriorcornealsurfaceobjectivelyindetail.