Yau S C, Roberts R G, Bobrow M, Mathew C G
Paediatric Research Unit, United Medical School, Guy's Hospital, London, UK.
Lancet. 1993 Jan 30;341(8840):273-5. doi: 10.1016/0140-6736(93)92618-4.
In about one-third of patients with Duchenne/Becker muscular dystrophy, the causative mutation does not involve gross alterations in the structure of the dystrophin gene. Prenatal diagnosis and carrier detection for such families is therefore dependent on the indirect method of linkage analysis with polymorphic DNA markers, a method that is subject to error. The identification of point mutations in the dystrophin gene in six affected males enabled us to develop direct assays, based on the polymerase chain reaction, that are specific for each of the mutations. In all six cases, the assays allowed us to offer families accurate carrier testing and prenatal diagnosis.
在约三分之一的杜氏/贝克肌营养不良症患者中，致病突变并不涉及抗肌萎缩蛋白基因结构的明显改变。因此，对此类家族进行产前诊断和携带者检测依赖于使用多态性DNA标记进行连锁分析的间接方法，而该方法容易出错。对六名受影响男性的抗肌萎缩蛋白基因中的点突变进行鉴定，使我们能够开发基于聚合酶链反应的直接检测方法，这些方法对每个突变都具有特异性。在所有六个病例中，这些检测方法使我们能够为家族提供准确的携带者检测和产前诊断。
