摘要
目的建立中国人遗传性脊髓小脑型共济失调(SCA)患者的SCA1、SCA2、SCA3/MJD、SCA6型的CAG三核苷酸重复(CAG)n频率的检测方法并探讨其诊断意义。方法应用聚合酶链式反应(PCR)和6%变性聚丙烯酰胺凝胶电泳技术,检测了30例正常人和6例临床诊断为SCA患者上述4型的(CAG)n重复数。结果30例正常人(CAG)n的重复数目分别为SCA16~40次,SCA222~29次,SCA313~36次,SCA64~16次。6例SCA患者中2例有SCA3异常,(CAG)n重复数分别为67和75,而SCA1、SCA2、SCA6型(CAG)n重复数均在正常范围内。结论研究三核苷酸重复频率的检测为SCA患者提供了准确可靠的诊断方法和标准。
Objective To establish the detective methods of the frequence of the SCA 1, SCA 2, SCA 3/MJD,SCA 6 type CAG trinucleotide repeat expansions (CAG)n among Chinese patients with hereditary spinocerebeller ataxia (SCA) and discuss its clinical significance. Method The (CAG)n mutations of SCA 1.2.3.6 were detected with polymerase chain reaction(PCR) and analyzed by 6% denaturing polyacrylamie gel in 30 controls and 6 patients with SCA by clinical findings. Results Among 30 normal people the (CAG)n repeats of each type were:SCA 1,6~40 repeats,SCA 2 22~29 repeats,SCA 3 13~36 repeats,SCA 6 4~16 repeats.2 cases of 6 presumed SCA patients had abnormal SCA 3,(CAG)n repeats:67 and 75 respectively.The (CAG)n repeats of SCA 1,SCA 2 and SCA 6 were all normal.Conclusion The method introduced in the paper is reliable.The results are accurate and can be used as diagnostic criteria.
出处
《临床神经病学杂志》
CAS
1999年第1期6-8,共3页
Journal of Clinical Neurology