摘要目的 探讨我国散发性肌萎缩侧索硬化(SALS)与运动神经元生存基因(SMN)缺失之间的关系.方法 收集141例SALS患者和134名健康对照的外周静脉血并抽提DNA,应用聚合酶链反应.限制性片段长度多态性(PCR-RFLP)进行SMN基因缺失筛查.缺失频率的比较采用卡方检验分析.结果 4例SALS患者和3名健康对照分别检出SMN2基因第7、8号外显子纯合缺失,缺失频率分别为2.84%(4/141)和2.24%(3/134),差异无统计学意义(χ2=0.0001,P=1.000).此外,所有研究对象均未检出SMN1基因纯合缺失.结论 SMN基因纯合缺失与我国SALS患者之间无明显相关性.

abstractsObjective To investigate the correlation between survival motor neuron (SMN) gene deletion and Chinese patients with sporadic amyotrophic lateral sclerosis (SALS).Methods A total of 141SALS patients and 134 unrelated controls were recruited from the Chinese population.Polymerase chain reaction (PCR) and restriction fragment length polymorphisro (RFLP) analysis were performed to screen SMN gene deletion.Frequencies of deletion were coropared by Chi-square test.Results Four patients and 3 controls were detected to have horoozygous SMN2 deletion.The frequencies of SMN2 deletion were 2.84%(4/141) and 2.24% (3/134), respectively, which was not significantly different (χ2= 0.0001, P =1.000).No subjects were found to have homozygous SMN1 deletion.Condusion There is no correlation between SMN gene deletion and Chinese patients with SALS.