Investigation of survival motor neuron gene deletion in Chinese patients with sporadic amyotrophic lateral sclerosis

VernacularTitle:散发性肌萎缩侧索硬化与运动神经元生存基因缺失的关系
Author: Zongquan SU ; Shirui GAN ; Zhiying WU ; Wanjin CHEN ; Yan CHEN ; Ning WANG ; Shenxing MURONG ; Chuanzhen Lü
Publication Type:Journal Article
Keywords: Aroyotrophic lateral sclerosis; Motor neurons; Gene deletion; Nerve tissue proteins; RNA-binding proteins; Cyclic AMP response eleroent-binding protein
From: Chinese Journal of Neurology 2009;42(4):245-247
CountryChina
Language:Chinese
Abstract: Objective 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.