Study On Characteristics Of Mutation Of Senataxin Gene In Amyotrophic Lateral Sclerosis

Objectives: To study on characteristics of mutation of senataxin gene (SETX) in amyotrophic lateral sclerosis (ALS).Methods: 1.Amplified 21 exons of the SETX gene in 60 ALS patients.2.Screening the mutations and polymorphisms by denaturing high-performance liquid chromatography(DHPLC) and DNA sequencingResults: 1.We found 3 mutations in the SETX gene, which have not been reported previously.2.We also found 19 polymorphisms in the SETX gene. Conclusions: 1.The mutation of SETX gene is rare in ALS patients.2.The polymorphisms of SETX gene is common in ALS patients.3.DHPLC together with DNA sequencing is an efficient and economical method for screening mutations.