Ginjaar I B, Bakker E, van Paassen M M, den Dunnen J T, Wessels A, Zubrzycka-Gaarn E E, Moorman A F, van Ommen G J
Department of Human Genetics, Sylvius Laboratory, Leiden, The Netherlands.
J Med Genet. 1991 Aug;28(8):505-10. doi: 10.1136/jmg.28.8.505.
We have performed immunohistochemical studies on muscle tissue of three 12 week old fetuses at risk for DMD, using antisera directed against regions located NH2-proximally and centrally in the rod shaped spectrin-like domain and against the COOH-terminus of dystrophin. All three fetuses had a family history of DMD. Truncated dystrophins were identified in all three cases by a positive reaction with the NH2-proximal antibody, different reactions with the central antibody, and a negative reaction with the COOH-terminal antibody. These data indicate that a panel of antibodies would, in principle, permit 'immunological' mapping of dystrophin mutations. This is diagnostically important in the 35% of families where no mutation is detectable at the DNA level. Secondly, by using this mapping technique it may also become possible to identify the at risk haplotype when DNA analysis is not informative. This may be of great value in DMD carrier detection.
我们使用针对位于杆状血影蛋白样结构域氨基近端和中央区域以及抗肌萎缩蛋白羧基末端的抗血清，对三名有杜氏肌营养不良症（DMD）风险的12周龄胎儿的肌肉组织进行了免疫组织化学研究。所有三名胎儿都有DMD家族病史。通过与氨基近端抗体的阳性反应、与中央抗体的不同反应以及与羧基末端抗体的阴性反应，在所有三例中均鉴定出截短的抗肌萎缩蛋白。这些数据表明，一组抗体原则上可以对抗肌萎缩蛋白突变进行“免疫”定位。这在35%的DNA水平检测不到突变的家庭中具有重要的诊断意义。其次，通过使用这种定位技术，当DNA分析无信息价值时，也有可能识别出有风险的单倍型。这在DMD携带者检测中可能具有很大价值。
