论文部分内容阅读
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 investigate the characteristics and distribution of various subtype types in patients with Spinocerebellar ataxia (SCA) in Guangxi, Polymerase chain reaction (PCR) and Capillary electrophoresis (CE) And other technical tests to analyze SCA1, SCA2, SCA3 / MJD, SCA6, SCA7 and SCA12 (CAG) n mutations in patients with hereditary ataxia. Twenty-one SCA3 / MJD mutations were detected in 21 of the 6 SCA pedigrees and 19 of the patients before SCI, with CAG repeats of 59-70 and 60-73, respectively. No SCA1, SCA2, SCA6, SCA7 and SCA12 (CAG) n mutations were detected. Studies have shown that SCA patients in Guangxi mainly SCA3 / MJD type, the number of patients with CAG less than previously reported.