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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 a method for detecting CAG trinucleotide repeat (CAG) n frequencies of SCA1, SCA2, SCA3 / MJD and SCA6 in Chinese patients with hereditary Spinocerebellar ataxia (SCA) and to explore its diagnostic significance. Methods Polymerase chain reaction (PCR) and 6% denatured polyacrylamide gel electrophoresis were used to detect the number of (CAG) n repeats in 30 normal subjects and 6 clinically diagnosed SCA patients. Results The numbers of repeat n of 30 healthy individuals (CAG) were 16 ~ 40 times for SCA, 22 ~ 29 times for SCA, 313 ~ 36 times for SCA, and 64 ~ 16 times for SCA. Two of the 6 SCA patients had SCA3 abnormalities, with a (CAG) n repeat of 67 and 75, respectively, while those of SCA1, SCA2 and SCA6 (CAG) n were within the normal range. Conclusion The study of the detection of trinucleotide repeat frequency provided an accurate and reliable diagnostic method and standard for SCA patients.