Prenatal diagnosis of dominant and recessive dystrophic epidermolysis bullosa: application and limitations in the use of KF-1 and LH 7:2 monoclonal antibodies and immunofluorescence mapping technique.
Prenatal diagnosis of dominant and recessive dystrophic epidermolysis bullosa: application and limitations in the use of KF-1 and LH 7:2 monoclonal antibodies and immunofluorescence mapping technique.
复制标题
显性和隐性营养不良性大疱性表皮松解症的产前诊断：KF-1和LH 7:2单克隆抗体和免疫荧光图谱技术的应用和局限性。
DOI：
10.1111/1523-1747.ep12476604
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发表时间：
1988
期刊：
影响因子：
--
通讯作者：
Hawkins,HK
中科院分区：
文献类型：
--
作者：
Fine,JD;Eady,RA;Levy,ML;Hejtmancik,JF;Courtney,KB;Carpenter,RJ;Holbrook,KA;Hawkins,HK
现在可以对功能性和隐性营养不良型大疱性表皮松解症 (EB) 进行产前诊断；然而，尽管 KF-1 单克隆抗体的数据表明，使用这种独特的探针至少可以在出生后识别出两种形式的营养不良 EB，但对于显性营养不良 EB 还没有类似的已发表经验。我们现在报告我们在患有显性营养不良 EB 的母亲及其处于危险之中的胎儿以及先前显示患有隐性营养不良 EB 的胎儿中使用光学显微镜、电子显微镜、免疫荧光图谱以及 KF-1 和 LH 7:2 单克隆抗体的经验。隐性营养不良 EB 胎儿皮肤中不存在 KF-1 和 LH 7:2 抗原，这与出生后观察到的结果相同。 LH 7:2 通常在患有显性营养不良 EB 的母亲及其有患这种疾病风险的胎儿中表达。相比之下，虽然 KF-1 抗原在受影响的母亲中异常表达，但它通常仅在 1/7 胎儿活检中表达，尽管光学和电子显微镜以及免疫荧光图谱显示该胎儿未受显性营养不良 EB 影响。我们的结论是：1) 透射电子显微镜可用于产前排除显性营养不良 EB（Cockayne-Touraine 品种）的诊断，2) 免疫荧光图谱是产前和产后 EB 诊断的准确技术，3) KF-1 本身不能用作显性营养不良 EB 产前诊断的准确探针，因为 妊娠中期胎儿皮肤中 KF-1 正常表达的时间存在明显差异。
Prenatal diagnosis is now possible for functional and recessive dystrophic forms of epidermolysis bullosa (EB); however, there is no similar published experience for dominant dystrophic EB, although data with KF-1 monoclonal antibody suggests that both forms of dystrophic EB can be identified at least postnatally with this unique probe. We now report our experience with light microscopy, electron microscopy, immunofluorescence mapping, and KF-1 and LH 7:2 monoclonal antibodies, in both a mother with dominant dystrophic EB and her fetus at risk, and in a fetus previously shown to be affected with recessive dystrophic EB. KF-1 and LH 7:2 antigens were absent in recessive dystrophic EB fetal skin, identical to findings observed postnatally. LH 7:2 was normally expressed in a mother with dominant dystrophic EB and in her fetus at risk for this disease. In contrast, while KF-1 antigen was abnormally expressed in the affected mother, it was normally expressed in only 1/7 fetal biopsies despite the fact that this fetus was shown by light and electron microscopy and immunofluorescence mapping to be unaffected with dominant dystrophic EB. We conclude that 1) transmission electron microscopy can be used to prenatally exclude the diagnosis of dominant dystrophic EB (Cockayne-Touraine variety), 2) immunofluorescence mapping is an accurate technique for prenatal as well as postnatal diagnosis of EB, and 3) KF-1 cannot by itself be used as an accurate probe for the prenatal diagnosis of dominant dystrophic EB, due to the apparent variability in the time for the normal expression of KF-1 in fetal skin during the second trimester.