摘要
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。
Objective To explore SCA 3 gene mutation in the patients with inherited spinocerebellar ataxia.\ Methods The SCA 3 gene mutation was determined with the polymerase chain reaction(PCR) and PAGE with silver staining techniques in 32 patients with SCA and their relatives (22 persons) from 15 families.\ Results\ The results showed that 21 patients from 5 families displayed SCA 3 allele containing abnormal CAG repeats, among them 2 patients and 1 asymptomatic person from one family had an expanded allele with 48 CAG repeats.\ Conclusion\ The detection of dynamic mutation is the only way for gene diagnosis of SCA. [
出处
《青岛大学医学院学报》
CAS
2000年第3期185-186,共2页
Acta Academiae Medicinae Qingdao Universitatis
