Association of the Slit and Trk-like 1 gene in Taiwanese patients with Tourette syndrome
Association of the Slit and Trk-like 1 gene in Taiwanese patients with Tourette syndrome
复制标题
DOI：
10.1016/j.pediatrneurol.2007.06.017
复制
发表时间：
2007-12-01
影响因子：
3.8
通讯作者：
Tsai, Fuu-Jen
中科院分区：
文献类型：
--
作者：
Chou, I-Ching;Wan, Lei;Tsai, Fuu-Jen
抽动秽语综合症是一种以运动和发声抽动为特征的神经系统疾病。最近，两个变异体，包括导致蛋白质截短的单碱基缺失和改变 Slit 和 Trk-like 1 基因中 micro-RNA 结合位点的 3' 非翻译区变异体，被发现是抽动秽语综合征的遗传原因。 Slit 和 Trk-like I 家族被鉴定为控制神经突生长的神经元跨膜蛋白。本研究旨在确定台湾抽动秽语综合征患者是否存在该基因突变。总共包括 160 名患者。所有儿童均接受外周血采样以进行基因型分析。我们对整个 Slit 和 Trk-like I 基因进行了测序，包括启动子、3'-非翻译区、5'-非翻译区和整个编码区。我们发现这 160 个样本中没有一个显示出整个基因序列有任何突变。此外，在10个个体中仅检测到一种多态性，c.3225 T>C。我们的结论是，在罕见的变异中，可能很难建立与疾病的关联。因此，针对最近发现的突变对 Slit 和 Trk-like I 基因进行基因筛查似乎对抽动秽语综合征的诊断没有用处。 (c) 2007 年，Elsevier Inc. 保留所有权利。
Tourette syndrome is a neurologic disorder characterized by both motor and vocal tics. Recently, two variants, including a single-base deletion resulting in a truncated protein and a 3'-untranslated-region variant altering a binding site for micro-RNA in the Slit and Trk-like 1 gene, were found to be a genetic cause of Tourette syndrome. The Slit and Trk-like I family was identified as neuronal transmembrane proteins that control neurite outgrowth. This study aimed to determine whether mutations in the gene can be found in Taiwanese patients with Tourette syndrome. In total, 160 patients were included. All children underwent peripheral blood sampling for genotype analyses. We sequenced the whole Slit and Trk-like I gene, including the promoter, the 3'-untranslated region, the 5'-untranslated region, and the whole coding region. We found that none of the 160 samples revealed any mutation in the whole gene sequence. In addition, there was only one polymorphism, c.3225 T>C, detected in 10 individuals. We conclude that in rare variants, it may be difficult to establish an association with disorder. Therefore, genetic screening in the Slit and Trk-like I gene for the recently identified mutations does not appear to be of utility in the diagnosis of Tourette syndrome. (c) 2007 by Elsevier Inc. All rights reserved.