Mutation analysis of atlastin gene in patients with hereditary spastic paraplegia / 临床神经病学杂志

Objective To investigate the mutation characteristics of atlastin gene in Chinese patients with hereditary spastic paraplegia(HSP) and establish the base of gene diagnosis of HSP.Methods Mutation analysis of atlastin gene was made by use of polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) combined with DNA direct sequencing in 30 unrelated affected HSP individuals in China in which 20 cases were from autosomal dominant families and ten cases were sporadic HSP patients.Results No abnormal SSCP bands were found in the 30 individuals and the results of DNA direct sequencing were also normal.Conclusion Mutation of atlastin gene may be rare in Chinese HSP patients.