Apold J, Eiken H G, Engebretsen L F, Boman H
Avdeling for medisinsk genetikk Haukeland Sykehus, Bergen.
Tidsskr Nor Laegeforen. 1993 Oct 30;113(26):3233-5.
Analysis of DNA from archival, paraffin-embedded muscle tissue allowed tracing of the mutated dystrophin gene in two families with Duchenne muscular dystrophy. There were no living patients in these families. In one family this diagnosis contributed to the birth of a normal male, in the other family to the demonstration of carrier status. These analyses, based on the polymerase chain reaction, are relatively rapid and simple, and lend increased value to old tissue samples stored in pathology departments.
对存档的石蜡包埋肌肉组织中的DNA进行分析,使得在两个患有杜氏肌营养不良症的家族中追踪到了突变的抗肌萎缩蛋白基因。这些家族中没有在世的患者。在一个家族中,这一诊断促使一名正常男性出生;在另一个家族中,则有助于证明携带者状态。这些基于聚合酶链反应的分析相对快速且简单,为病理科保存的旧组织样本增添了更多价值。