ABSTRACT
Objective To investigate the mutation characteristics of paraplegin gene in Chinese patients with hereditary spastic paraplegia (HSP) and establish the base of the gene diagnosis of HSP.Methods Mutation analysis of paraplegin gene was carried out by use of polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) combined with DNA direct sequencing in 22 unrelated affected HSP individuals in China, in which 8 probands were from autosomal recessive families and 14 cases were sporadic.Results All of the exons could be detected by PCR. 2 probands were found to have abnormal SSCP bands in exon 15 and 2 substitutes (G2063A, G2066A in exon 15) were found by DNA direct sequencing. But there were no changes in other patients of families.!The same abnormal SSCP bands and G→A substitutes were revealed in control individuals. So these changes were two polymorphisms, in which G2066A was not reported previously.Conclusion Mutations of paraplegin gene may be rare in Chinese patients with HSP. G2063A and G2066A are two polymorphisms, in which G2066A has not been reported previously.