为探讨广西地区脊髓小脑性共济失调(Spinocerebellar ataxia, SCA)患者各种亚型类型特点及分布状况, 应用聚合酶链反应(Polymerase chain reaction, PCR)、毛细管电泳(Capillary electrophoresis, CE)片段分析等技术检测分析遗传性共济失调患者的SCA1、SCA2、SCA3/MJD、SCA6、SCA7和SCA12 (CAG)n突变。在6个SCA家系共检出21例患者和19例症状前患者均为SCA3/MJD突变, CAG重复数分别为59～70次和60～73次。未检测到SCA1、SCA2、SCA6、SCA7和SCA12(CAG)n突变。研究表明, 广西地区的SCA病人主要为SCA3/MJD型, 患者的CAG重复数低于过去的报道。
To characterize the distributions and subtypes of the spinocerebellar ataxias (SCA) in Guangxi region, the SCAl, SCA2, SCA3/MJD, SCA6, SCA7 and SCA12 (CAG)n mutations were analyzed by polymerase chain reaction (PCR) and capillary electrophoresis (CE). The SCA3/MJD mutation was detected in a total of 21 SCA patients and 19 presymptomatic individuals from 6 SCA families and their CAG repeat numbers were 59~70 and 60~73, respectively. No (CAG)n mutations of SCA1, SCA2, SCA6, SCA7 and SCA12 were detected. 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.
