Gene Diagnosis And CAG Repeat Analysis Of Spinocerebellar Ataxia Cases Of Guangxi Region

Objective: To characterize the distributions and subtypes of the spinocerebellar ataxias (SCA)in Guangxi region.Methods: The SCAl,SCA2,SCA3/MJD,SCA6,SCA7 and SCA12 (CAG)n mutations were analyzed by polymerase chain reaction (PCR) and capillary electrophoresis(CE).Results: A total of 21 SCA patients and 19 presymptomatic individuals from 6 SCA families and their CAG repeat numbers expanded from 59～70 and 60～73 respectively. No(CAG)n mutation of SCA1,SCA2,SCA6,SCA7 and SCA12 were detected.Conclusion: This study showed that SCA in Guangxi region is mostly SCA3/MJD subtype and the CAG repeats are smaller than those reported in other regions previously. The gene diagnosis is more accurate and can be used as diagnostic criteria...