Abstract

:Objective To investigatethe correlation between survival motor neuron (SMN) gene deletion and Chinese patientswith sporadic amyotrophic lateral sclerosis (SALS).Methods A total of 141SALS patients and134 unrelated controls were recruited from the Chinese population.Polymerase chainreaction (PCR) and restriction fragment length polymorphisro (RFLP) analysis wereperformed to screen SMN gene deletion.Frequencies of deletion were coropared by Chi-squaretest.Results Four patients and 3 controls were detected to have horoozygous SMN2deletion.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 havehomozygous SMN1 deletion.Condusion There is no correlation between SMN gene deletion andChinese patients with SALS. Key words: Aroyotrophic lateral sclerosis ; Motor neurons; Genedeletion; Nerve tissue proteins; RNA-binding proteins; Cyclic AMP responseeleroent-binding protein

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