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遗传性脊髓小脑型共济失调的CAG三核苷酸突变检测 |
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唐北沙 夏家辉 王德安 汤熙祥 沈璐 刘春宇 戴和平
严新翔 潘乾 肖剑峰 张宝荣 欧阳珊
【摘要】 目的 评价SCA1、SCA2、SCA3/MJD、SCA6、SCA7和DRPLA的CAG三核苷酸异常扩增突变［(CAG)n］，在中国人遗传性脊髓小脑型共济失调(spinocerebellar ataxia,SCA)患者的分布频率。方法经聚合酶链反应、变性聚丙烯酰胺凝胶电泳和银染显带技术，检测分析了85个中国人常染色体显性遗传SCA家系(其中患者167例)和37例散发SCA患者的SCA1、SCA2、SCA3/MID、SCA6、SCA7、DRPLA(CAG)n。结果 在85个SCA家系中，4个SCA家系7例患者有SCA1(CAG)n突变，5个SCA家系12例患者有SCA2(CAG)n突变，41个SCA家系83例患者有SCA3/MID(CAG)n突变，阳性率分别为4.70%、5.88%、48.23%，未发现SCA6、SCA7、DRPLA(CAG)n突变。散发型SCA患者的SCA1、SCA2、SCA3/MJD、SCA6、SCA7、DRPLA(CAG)n突变检测未见异常。SCA1患者CAG三核苷酸重复数为53～62次，SCA2患者CAG三核苷酸重复数为43～47次，SCA3/MJD患者CAG三核苷酸重复数为68～83次。这些家系的突变检测分析显示异常扩增的CAG重复数与发病年龄呈明显负相关。结论 中国SCA主要为SCA3/MJD型，属于非葡萄牙型MJD，而SCA1型、SCA2型少见。由于SCA临床表现的重叠性，SCA基因诊断及基因型分型具有重要的临床意义。
【关键词】 遗传性脊髓小脑型共济失调 三核苷酸重复 基因诊断
CAG trinucleotide mutation detection in patients with hereditary spinocerebellar ataxia
TANG Beisha*,XIA Jiahui, WANG Dean, TANG Xixiang, SHEN Lu, LIU Chunyu, DAI Heping, YAN Xinxiang, PAN Qian, XIAO Jianfeng, ZHANG Baorong, OU Yangshan.
*Department of Neurology, Xiangya Hospital,Hunan Medical University, Changsha, 410008 P.R.China. E-mail:[email protected].
【Abstract】 Objective To assess the frequency of the SCA1, SCA2, SCA3/MJD, SCA6, SCA7 and DRPLA CAG trinucleotide repeat expansions (CAG)n among individuals diagnosed with hereditary spinocerebellar ataxia(SCA) from Chinese families. Methods The SCA1,SCA2,SCA3/MJD, SCA6,SCA7 and DRPLA(CAG)n mutations were detected by polymerase chain reaction (PCR), denaturing polyacrylamide gel electrophoresis and silver staining technique in 167 patients with autosomal dominant SCA from 85 Chinese families and 37 sporadic SCA patients.Results Among 85 families, four families (4.70%) had seven SCA1 patients with the CAG repeat expanded to 53 to 62 repeats, five (5.88%) had twelve SCA2 patients with the CAG repeat expanded to 43 to 47 repeats, and 41 (48.23%) had 83 SCA3/MJD patients with the CAG repeat expanded to [1] [2] [3] 下一页
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