摘要
目的:探讨2例脊髓小脑性共济失调患者的临床特点及基因突变特点。方法:详细收集2例住院患者临床病史资料,并对其进行基因检测,采用聚合酶链反应分别扩增SCA1、SCA2、SCA3、SCA6、SCA7、SCA12及DRPLA致病基因的CAG重复序列。结果:1例女性患者诊断为SCA1,另1例男性患者诊断为SCA2。结论:脊髓小脑性共济失调患者的临床表现存在一定差异,检测基因的CAG重复数是确诊的有效方法。
Objective：To investigate the clinical characteristics and gene mutation of 2 patients with spinocerebellar ataxia.Method：The clinical data of 2 inpatients were collected and analyzed by polymerase chain reaction （PCR）.The CAG repeats of SCA1,SCA2,SCA3,SCA6,SCA7,SCA12 and DRPLA were amplified by polymerase chain reaction.Result：SCA1 was diagnosed in one female patient and SCA2 in another male patient.Conclusion：The clinical manifestations of patients with spinocerebellar ataxia are different,and the number of CAG repeats of the test gene is an effective method for diagnosis.
出处
《中外医学研究》
2017年第26期163-164,共2页
CHINESE AND FOREIGN MEDICAL RESEARCH
