多系统萎缩患者FMR1基因前突变分析

Analysis of fragile X mental retardation 1 gene premutation in multiple system atrophy patients

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13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。

Objective 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 MSA- P 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.