散发性ALS中SOD1基因位点和疾病易感性或表型之间并无关联

• 作 者: Broom W.J.ton M.J. C.E.Shaw 张玉龙
• 机 构: Dept. of Med. and Mol ecular Genetics, Guy's, King's/St. Thomas's Sch. Med., London SE1 9RT, Uni ted
• 出 处: 世界核心医学期刊文摘(神经病学分册)
• 发表日期: 2005年05期
• 关键词: 疾病易感性 基因位点 关联 发性 表型 单倍体 野生型 运动神经元 族性 核苷酸

Mutations in the copper zinc superoxide dismutase gene (SOD1) are found in 20 % of familial and 3% of sporadic ALS patients. SOD1 protein aggregation can be detected in motor neurons of mutation-negative sporadic cases but a pathogr enic role for wild-type SOD1 in ALS has not been demonstrated. In this study o f 233 ALS cases and 248 controls the authors found no significant association be tween four individual single nucleotide polymorphisms and a deletion spanning th e SOD1 locus (or their combined haplotypes), and disease susceptibility, or phen otype.

Mutations in the copper zinc superoxide dismutase gene (SOD1) are found in 20% of familial and 3% of sporadic ALS patients. SOD1 protein aggregation can be detected in motor neurons of mutation-negative sporadic cases but a pathogr enic role for wild-type SOD1 in ALS has not been demonstrated. In this study of 233 ALS cases and 248 controls the authors found no significant association be tween four individual single nucleotide polymorphisms and a deletion spanning th e SOD1 locus (or their combined haplotypes), and disease susceptibility, or phenotype