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限制性片段长度多态(RFLP)在Duchenne型肌营养不良携带者检出和产前诊断的应用已有报道。有关连锁数据的最新资料表明Duchenne型肌营养不良(DMD)和Becker型肌营养不良(BMD)是同等位基因缺陷病。所以,用于DMD诊断用的DNA探针同样适用于BMD。目前已获得了位于DMD基因内的DNA探针,应用这些探针找到的限制性片段多态与DMD突变无任何重组现象。在基因的特异性突变及其功能弄清以前,对于有生育DMD和BMD患儿风险的家庭,这些紧密连锁的RFLP是有用的。
The application of restriction fragment length polymorphism (RFLP) detection and prenatal diagnosis in Duchenne muscular dystrophy carriers has been reported. Recent data on linkage data suggest that Duchenne’s muscular dystrophy (DMD) and Becker’s muscular dystrophy (BMD) are idiopathic deficiencies. Therefore, DNA probes for DMD diagnosis are equally applicable to BMD. At present, DNA probes located in the DMD gene have been obtained. There is no recombination between the restriction fragment polymorphism found by these probes and the DMD mutation. These tight-lined RFLPs are useful for families at risk of having children with DMD and BMD until gene-specific mutations and their functions are well understood.