Jones C T, Shaw P J, Chari G, Brock D J
Human Genetics Unit, University of Edinburgh, Western General Hospital.
Mol Cell Probes. 1994 Aug;8(4):329-30. doi: 10.1006/mcpr.1994.1046.
We have been screening a cohort of 46 sporadic and 10 familial amyotrophic lateral sclerosis patients for mutations in the superoxide dismutase gene (SOD1) using a combination of SSCP and direct PCR sequencing. A novel missense mutation (Asp101Asn) has been detected in one sporadic patient and a previously reported mutation has been found in two familial cases.
我们一直在使用单链构象多态性（SSCP）和直接PCR测序相结合的方法，对46例散发性和10例家族性肌萎缩侧索硬化症患者组成的队列进行超氧化物歧化酶基因（SOD1）突变筛查。在1例散发性患者中检测到一种新的错义突变（Asp101Asn），在2例家族性病例中发现了一个先前报道过的突变。
