Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis

被引：15

作者：

Falco, M

Scuderi, C

Musumeci, S

Stumio, M

Neri, M

Bigoni, S

Caniatti, L

Fichera, M

机构：

[1] IRCCS Oasi Maria SS, Lab Patol Genet, I-94018 Troina, Enna, Italy

[2] IRCCS Oasi Maria SS, Dipartimento Neurol, Troina, Italy

[3] Univ Ferrara, Dipartimento Med Sperimentale & Diagnost, Sez Genet Med, I-44100 Ferrara, Italy

[4] Azienda Osped S Anna, Dipartimento Neurosci, Sez Neurol, Ferrara, Italy

来源：

NEUROMUSCULAR DISORDERS | 2004年 / 14卷 / 11期

关键词：

spastic paraparesis; SPG4; dominance; spastin; DHPLC;

D O I：

10.1016/j.nmd.2004.05.017

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The most common form of autosomal dominant hereditary spastic paraplegia is caused by mutations in the gene encoding spastin (SPG4), a member of the AAA family of ATPases. In the current study, we designed a denaturing high-performance liquid chromatography based protocol for the analysis of the SPG4 gene. Using this method, we detected two novel missense mutations, 1375A>G (R459G) and 1378C>T (R460C), one previously described five bases deletion (1215_1219del) and three polymorphic changes. This study suggests that denaturing high-performance liquid chromatography would be a fast and reliable tool in the investigation of the molecular defects in the SPG4 gene. (C) 2004 Elsevier B.V. All rights reserved.

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收藏

页码：750 / 753

页数：4

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