The Research Of Genetic Typing Of Patients With Spinocerebellar Ataxia In Guangxi Region

Objective: To explore the Guangxi region population Spinocerebellarataxia（SCA) the incidence and characteristics of subtypes of genotype andprovides the basis for the diagnosis and symptoms before the diagnosis of genes.Methods:1.The part one of this study included148patients and theirrelatives with autosomal dominant SCA from20kindreds and12sporadic SCApatients in guangxi region. Fluorescence-PCR and fragment analysis withcapillary electrophoresis were applied to count the CAG—repeat expansion ofSCA1,2,3,7gene and was proved with sequencing．2. Statistics proportion of each type, and with other regions of the statisticsliterature comparing understand spinocerebellar ataxia prevalence anddistribution in the world and China.Results:4patients,4presymptomatic relatives and1sporadic patient wereconfirmed by detecting the presence of abnormal CAG—repeat expansion inSCAl gene.2patients and1presymptomatic relatives were confirmed bydetecting the presence of abnormal CAG—repeat expansion in SCA2gene．30 patients,26presymptomatic relatives and4sporadic patients were confirmed bydetecting the presence of abnormal CAG-repeat expansion in SCA3gene．Fourfamilies don’t parting, a total of10patients.SCA1gene in patients with insidethe CAG repeat number is43-60times (normal23to35), SCA2gene inpatients with inside the CAG repeat number is42-55times (normal20to29),SCA3gene in patients with inside the CAG repeat number of59-86(normal12to40).Conclusion: We can made genetic diagnosis of SCA1,SCA2,SCA3bydetecting the CAG-repeat expansion of SCA1,SCA2,SCA3gene.The frequcncyof SCA3is substantially higher than that of SCA1and SCA2in theautosomal dominant SCA patients;SCA7are rare.