Martin J J, Ceuterick C, Lübke U, Van Broeckhoven C
Laboratory of Neuropathology, Born-Bunge Foundation.
Acta Neurol Belg. 1993;93(3):130-8.
Between 1989 and 1991, we realized 36 prenatal DNA diagnoses in 23 families at risk for Duchenne muscular dystrophy (DMD). The families were previously analyzed using multiplex polymerase chain reaction (PCR) analysis, Southern blot hybridization with cDNA markers, pulse field gel electrophoresis (PFGE) and linkage studies with polymorphic DNA markers. Eighteen male foetuses were examined and seven were found to be affected. Immunohistochemistry (IHC) of muscle tissue was realized after abortion in four foetuses aged 12 to 22 weeks. Three age-matched controls were used. Poly- and monoclonal antibodies against different epitopes of dystrophin were used. A polyclonal spectrin antibody was utilized to check for membrane integrity. DNA analysis of chorion villi had demonstrated an out of frame deletion in all four foetuses, later confirmed on abortion material. The different epitopes of dystrophin were absent on immunohistochemical sections while they were present in control cases. Spectrin was present in patients as well as in controls. IHC can be used to confirm the results of DNA diagnosis of DMD in foetuses.
1989年至1991年间，我们对23个有杜氏肌营养不良症（DMD）风险的家庭进行了36次产前DNA诊断。此前已使用多重聚合酶链反应（PCR）分析、cDNA标记的Southern印迹杂交、脉冲场凝胶电泳（PFGE）以及多态性DNA标记的连锁研究对这些家庭进行了分析。对18例男性胎儿进行了检查，其中7例被发现患病。对4例12至22周龄的胎儿流产后进行了肌肉组织的免疫组织化学（IHC）检查。使用了3例年龄匹配的对照。使用了针对肌营养不良蛋白不同表位的多克隆和单克隆抗体。使用多克隆血影蛋白抗体检查膜的完整性。绒毛膜绒毛的DNA分析显示，所有4例胎儿均存在移码缺失，这一结果在流产材料上得到了证实。免疫组织化学切片上未检测到肌营养不良蛋白的不同表位，而在对照病例中则存在。血影蛋白在患者和对照中均存在。免疫组织化学可用于证实胎儿DMD的DNA诊断结果。
