摘要
目的探讨脊髓小脑共济失调症(spinocerebellar ataxia,SCA)基因诊断的方法。方法根据患者的临床表现及我国该病发病率,通过聚合酶链反应,对一例患者的SCA1、SCA2、SCA3三个基因的三核苷酸重复片段进行扩增,然后通过琼脂糖凝胶电泳和PCR产物直接测序的方法确定异常扩增等位基因内的CAG三核苷酸重复数目。结果该患者SCA3致病基因出现异常等位基因,CAG扩增次数为67次。结论临床表现为脊髓小脑共济失调症患者,可通过实验室的基因诊断进行确诊。
Objective To discuss the method of genetic diagnosis for spinocerebellar ataxia in this study. Methods According to the clinical characteristics of a patient and the disease incidence in China, the CAG duplicate number of the SCA1, SCA2 and SCA3 were amplified by polymerase chain reaction （PCR） for the patient.The number of CAG repeats in abnormal allele fragments were identified with agarose gel electrophoresis and direct DNA sequencing. Results Genetic diagnosis of spinocerebellar ataxia showed that the CAG duplicate time of abnormal allelic gene SCA3 was detected. The CAG was amplified 67 times. Conclusion Genetic diagnosis can be established for the patient with clinical characteristics of cerebellar ataxia.
出处
《中国现代医生》
2012年第13期127-128,共2页
China Modern Doctor
