苏格兰肌萎缩侧索硬化症患者未选队列中的超氧化物歧化酶突变
Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients.
作者信息
Jones C T, Swingler R J, Simpson S A, Brock D J
机构信息
Human Genetics Unit, University of Edinburgh, Western General Hospital, UK.
出版信息
J Med Genet. 1995 Apr;32(4):290-2. doi: 10.1136/jmg.32.4.290.
Abstract
Mutations in the Cu/Zn superoxide dismutase (SOD1) gene are responsible for some cases of familial amyotrophic lateral sclerosis (ALS). We have shown that SOD1 mutations can also occur in apparently sporadic ALS. To establish how often this happens we have undertaken a study of the prevalence of SOD1 mutations in an unselected cohort of Scottish ALS patients, with both sporadic (n = 57) and familial (n = 10) disease. Single strand conformation polymorphism analysis was used to scan for new mutations, and selective restriction enzyme digestion to screen for 11 of the 20 SOD1 mutations published to date. We detected mutations in five (50%) of the familial ALS patients and also in four (7%) of the sporadic patients. One mutation, ile113thr, seems to be particularly prevalent in the Scottish population since it was detected in a total of 6/67 (9%) unrelated cases.
摘要
铜/锌超氧化物歧化酶（SOD1）基因突变是导致某些家族性肌萎缩侧索硬化症（ALS）病例的原因。我们已经表明，SOD1突变也可能出现在明显散发型的ALS中。为了确定这种情况发生的频率，我们对一组未经选择的苏格兰ALS患者进行了一项关于SOD1突变患病率的研究，这些患者既有散发性疾病（n = 57），也有家族性疾病（n = 10）。采用单链构象多态性分析来扫描新的突变，并使用选择性限制性酶切来筛选迄今为止已公布的20种SOD1突变中的11种。我们在5名（50%）家族性ALS患者中检测到突变，在4名（7%）散发性患者中也检测到突变。一种突变，即Ile113Thr，在苏格兰人群中似乎特别普遍，因为在总共6/67（9%）例无关病例中都检测到了这种突变。
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