摘要目的 了解中国大陆多系统萎缩患者是否存在FMR1基因前突变.方法 运用聚合酶链式反应、琼脂糖凝胶电泳和毛细管电泳方法对中日友好医院运动障碍与神经遗传病研究中心自2007年1月至2013年1月收集的部分多系统萎缩(MSA)患者(共157例,男83例,女74例,其中MSA-C型51例,MSA-P型12例,MSA-P+C型94例)进行FMR1基因CGG重复次数的检测.结果 在157例MSA患者中未发现携带FMR1前突变,所有患者FMR1基因CGG重复次数介于11 ～49次,最常见的等位基因重复次数为22次,一例MSA-C患者携带的两个等位基因CGG重复次数分别为35/49次,该患者头颅影像学检查未见小脑中脚征.结论 中国大陆多系统萎缩患者中FMR1基因前突变携带率很低.

abstractsObjective To investigate whether Chinese multiple system atrophy(MSA) patients have premutation of fragile X mental retardation 1 gene(FMR1).Methods FMR1 CGG repeats were analyzed in 157 MSA patients by polymerase chain reaction,agarose gel electrophoresis and capillary electrophoresis.The patients were collected from Movement Disorder & Neurogenetics Research Center of China-Japan friendship hospital.There were 83 male cases and 74 female cases,including 51 MSA-C patients,12 MSAP patients and 94 MSA-P + C patients.Results No FMR1 CGG repeat premutation was detected in 157 MSA patients.The repeats ranged from 11-49,most common allele was 22.A MSA-C case carried 35/49 alleles did not have middle cerebellar peduncles(MCP) sign which was necessary for the diagnosis of fragile X associated tremor ataxia syndrome (FXTAS).Conclusion The FMR1 premutation in Chinese MSA patients might be very rare.