A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy
A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy
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DOI：
10.1016/j.nmd.2007.07.003
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发表时间：
2008-01-01
影响因子：
2.8
通讯作者：
Quattrone, A.
中科院分区：
文献类型：
--
作者：
Conforti, F. L.;Sprovieri, T.;Quattrone, A.
最近在爱尔兰和苏格兰人群中发现与14q11.2相关的血管生成素基因（ANG）突变与肌萎缩侧索硬化症（ALS）相关。在我们的研究中，我们调查了ANG基因在意大利南部ALS患者中的作用。我们发现了一个新的突变，在信号肽的ANG基因在散发患者ALS（SALS）。ANG基因的分子分析也证明了与家族性ALS（FALS）中的rs 11701单核苷酸多态性（SNP）的等位基因关联，但在SALS患者中不存在。我们的发现支持ANG基因参与ALS的证据。(C)2007 Elsevier B.V.保留所有权利。
Mutations in the Angiogenin gene (ANG) linked to 14q11.2 have been recently discovered to be associated with Amyotrophic Lateral Sclerosis (ALS) in Irish and Scottish populations. In our study we investigated the role of ANG gene in ALS patients from southern Italy. We found a novel mutation in the signal peptide of the ANG gene in a sporadic patient with ALS (SALS). The molecular analysis of the ANG gene also demonstrated an allelic association with the rs 11701 single nucleotide polymorphism (SNP) in familial ALS (FALS) but not in SALS patients. Our finding supports the evidence that the ANG gene is involved in ALS. (C) 2007 Elsevier B.V. All rights reserved.