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1目的 探讨遗传性脊髓小脑型共济失调 (SCA)病人 SCA3基因突变的意义。2方法 应用聚合酶链反应 (PCR)、聚丙烯酰胺凝胶电泳银染法 ,对临床诊断为 SCA的 15个家系的 32例病人及其有亲缘关系的 2 2例正常者 ,进行 SCA3基因内一段包含 CAG三核苷酸重复序列片段扩增。3结果 5个家系中的 2 1例病人各有 1个 SCA3异常等位基因扩增片段 ,其中 1个家系中 2例病人和 1例“正常者”的 1个等位基因的 CAG三核苷酸重复数目都为 48次。4结论 检测 SCA基因的动态突变是目前诊断 SCA的唯一有效方法。
1 Objective To investigate the significance of SCA3 gene mutation in patients with hereditary Spinocerebellar ataxia (SCA). 2 Methods Polymerase chain reaction (PCR), polyacrylamide gel electrophoresis silver staining, clinical diagnosis of SCA in 15 families of 32 patients and their relatives of 22 normal subjects, the SCA3 gene A fragment containing the CAG trinucleotide repeat fragment was amplified. 3 Results There were 1 SCA3 allele amplified fragment in 21 of 5 pedigrees, including 2 patients in 1 pedigree and 1 allele of “normal” allele CAG trinucleoside Acid repeats are 48 times. 4 Conclusion Detecting the dynamic mutation of SCA gene is the only effective method to diagnose SCA.