多系统萎缩患者三核苷酸动态突变研究

Research on dynamic mutation of SCA2、SCA3/MJD、TBP gene in patients with MSA

目的对多系统萎缩(MSA)患者进行SCA2、SCA3/MJD、TBP基因三核苷酸动态突变检测。方法应用聚合酶链式反应和变性聚丙烯酰胺凝胶电泳以及毛细管电泳方法对45例临床诊断为MSA的患者以及50名健康志愿者进行SCA2、SCA3/MJD、TBP基因CAG/CAA三核苷酸动态突变检测。结果 MSA患者SCA2、SCA3/MJD、TBP基因CAG/CAA三核苷酸重复次数范围分别为20-28、14-34、26-38次,健康志愿者分别为17-30、14-38、24-40,未在MSA患者中发现SCA2、SCA3/MJD、TBP基因三核苷酸动态突变。结论 SCA2、SCA3/MJD、TBP基因三核苷酸动态突变不是MSA病人的常见病因。

Objective To study the dynamic mutation of SCA2、SCA3/MJD、TBP gene in patients with MSA. Methods The CAG/CAA trinucleotide repeat dynamic mutation in SCA2、SCA3/MJD、 TBP gene in 45 MSA patients and 50 healthy controls were detected by using polymerase chain reaction,polyacrylamide gel electrophoresis,and capillary electrophoresis techniques. Results The CAG/CAA trinucleotide repeats range of SCA2、SCA3/MJD、TBP gene in MSA patients were 20-28、14-34 and 26-38 respectively ,the healthy controls were 17-28、14-38、26-40 respectively,the trinucleotide repeat dynamic mutation of SCA2、SCA3/MJD、TBP gene were not detected in all MSA patients. Conclusion The results of the present study support that the trinucleotide repeat dynamic mutation of SCA2、SCA3/MJD、TBP gene are extremely rare in MSA patients. the trinucleotide repeat dynamic mutation of these gene are not common cause of MSA.