Cobo A M, Martínez J M, Pradas J, Baiget M
Unidad de Genética Molecular, Hospital de la Santa Creu i Sant Pau, Barcelona.
Neurologia. 1990 Mar;5(3):86-91.
Myotonic dystrophy (MD) is the most common form of muscular dystrophy in adult life, with a clinical prevalence of 5.5/100,000, being the gene prevalence of 13.5. The disease is autosomal dominant with variable expressivity, existing a congenital form with a severe prognosis. Recent genetic studies revealed that the DM gene is localized in the chromosome's 19 proximal long arm and with recombinant DNA techniques, several polymorphic markers have been isolated near the gene, the closet being Apo-CII, LDR 152 and p 4.1. We have studied clinically, electrophysiologically and by genetic analysis 6 families with 32 individuals. We have diagnosed the disease in 16 individuals and after the molecular analysis, the DM gene was totally excluded in 6 clinically healthy individuals. In our preliminary study, the use of Msp I/p 4.1, Bgl II/LDR 152 y Ban I, Bgl I, Taq I/Apo-CII c-DNA and genomic was found the most informative combination. These molecular analysis seem to be very useful as a complement to the diagnosis of myotonic dystrophy.
强直性肌营养不良（MD）是成人期最常见的肌营养不良类型，临床患病率为5.5/10万，基因患病率为13.5。该病为常染色体显性遗传，表现度可变，存在一种预后严重的先天性形式。最近的遗传学研究表明，DM基因位于19号染色体近端长臂，运用重组DNA技术，已在该基因附近分离出几个多态性标记，距离最近的是载脂蛋白CII、LDR 152和p 4.1。我们对6个家族的32名个体进行了临床、电生理及遗传学分析。我们诊断出16名个体患有该病，经过分子分析，在6名临床健康个体中完全排除了DM基因。在我们的初步研究中，发现使用Msp I/p 4.1、Bgl II/LDR 152以及Ban I、Bgl I、Taq I/Apo-CII的cDNA和基因组进行分析是最具信息量的组合。这些分子分析作为强直性肌营养不良诊断的补充似乎非常有用。
