Yin Xin-Zhen, Zhang Bao-Rong, Wu Ding-Wen, Tian Jun, Zhang Hao
Department of Neurology, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China.
Yi Chuan. 2007 Jun;29(6):688-92. doi: 10.1360/yc-007-0688.
We investigated the clinical features and gene mutation in a pedigree of spinocerebellar ataxia (SCA). A series of clinical tests was performed including visual examination, retinal angiography, visual evoked potential, electroretinogram and magnetic resonance imaging. Genomic DNA of the family members and normal controls was used for amplification of the (CAG)n repeats of SCA1, SCA2, SCA3, SCA6, SCA7, SCA17 and DRPLA genes by PCR. The number of (CAG)n was determined by 8% denaturing polyacrylamide gel electrophoresis and direct sequencing. The main features of 2 patients were ataxia, visual failure, retinal degeneration, cerebellar and pontine atrophy. A mutation in SCA7 gene was detected, while no mutations were found in SCA1, SCA2, SCA3, SCA6, SCA17 or DRPLA gene. Therefore, this is a pedigree of SCA7. Analysis of the CAG trinucleotide repeat expansion at the SCA7 locus can provide valuable insights into SCA7.
我们对一个脊髓小脑共济失调（SCA）家系的临床特征和基因突变进行了研究。进行了一系列临床检查，包括视力检查、视网膜血管造影、视觉诱发电位、视网膜电图和磁共振成像。通过聚合酶链反应（PCR），利用该家系成员及正常对照的基因组DNA对SCA1、SCA2、SCA3、SCA6、SCA7、SCA17和齿状核红核苍白球路易体萎缩症（DRPLA）基因的（CAG）n重复序列进行扩增。通过8%变性聚丙烯酰胺凝胶电泳和直接测序确定（CAG）n的数量。2例患者的主要特征为共济失调、视力减退、视网膜变性、小脑和脑桥萎缩。检测到SCA7基因存在突变，而在SCA1、SCA2、SCA3、SCA6、SCA17或DRPLA基因中未发现突变。因此，这是一个SCA7家系。对SCA7基因座的CAG三核苷酸重复序列扩增进行分析可为SCA7研究提供有价值的见解。
