中国壮、汉族家族性肌萎缩侧索硬化症之红细胞内SOD-1活性分析

The analysis of SOD-1 activity in red blood cells about Familial amyotrophic lateral sclerosis of the Han and Zhuang nationatity in China

目的 探讨家族性肌萎缩侧索硬化症 (FAL S)患者及家系成员中红细胞内 SOD- 1活性变化。方法 采用生物化学方法测定红细胞内 SOD- 1活性。结果 在 2个家系中发现 6例 SOD- 1活性下降。结论 在 SOD- 1活性下降的 2个家系可能为 AL S1型 ,红细胞内 SOD- 1活性测定有可能作为 AL S1型患者及症状前诊断的方法之一 ,并可用于 FAL S初步分型及基因检测前的筛查。

Objective To study SOD 1 activity in red blood cells of FALS Methods With biochemical ways to determine SOD 1 activity Results 6 menbers in the 2 families had lower activity of SOD 1 Conclusions 2 families with degression of SOD 1 activity may be ALS1 The determination of SOD 1 activity can be used in diagnosis of ALS1 and carriers of ALS1 gene, it can also be used in screening whether the mutation of SOD 1genes occurres and classification of FALS