Melki J, Sheth P, Abdelhak S, Burlet P, Bachelot M F, Lathrop M G, Frezal J, Munnich A
INSERM Unité 12, Hôpital des Enfants Malades, Paris, France.
Lancet. 1990 Aug 4;336(8710):271-3. doi: 10.1016/0140-6736(90)91803-i.
Linkage analysis in twenty-five families with acute (type I) spinal muscular atrophy (SMA) showed that the mutant gene responsible for the disorder is tightly linked to the D5S39 locus. The mutation(s) causing the intermediate (type II) and juvenile chronic (type III) forms of SMA were also mapped to DNA marker D5S39 on chromosome 5 (5q12-q14). Thus, the three forms, which have been differentiated clinically on the basis of age of onset and clinical course, are most probably due to different mutations at a single locus on chromosome 5. Prenatal diagnosis of SMA type I will now be possible.
对25个急性（I型）脊髓性肌萎缩症（SMA）家庭进行的连锁分析表明，导致该疾病的突变基因与D5S39位点紧密连锁。导致中间型（II型）和青少年慢性型（III型）SMA的突变也被定位到5号染色体（5q12-q14）上的DNA标记D5S39。因此，这三种基于发病年龄和临床病程在临床上已被区分的类型，很可能是由于5号染色体上单个位点的不同突变所致。现在I型SMA的产前诊断将成为可能。
