Mutational analysis of neurotensin in familial restless legs syndrome

被引：22

作者：

Desautels, A

Turecki, G

Xiong, L

Rochefort, D

Montplaisir, J

Rouleau, GA

机构：

[1] McGill Univ, Neurosci Res Ctr, Montreal Gen Hosp, Montreal, PQ H3G 1A4, Canada

[2] Hop Sacre Coeur, Ctr Etud Sommeil, Montreal, PQ H4J 1C5, Canada

[3] Univ Montreal, Ctr Rech Sci Neurol, Montreal, PQ H3C 3J7, Canada

[4] McGill Univ, Douglas Hosp, Res Ctr, Montreal, PQ H3A 2T5, Canada

[5] McGill Univ, Montreal Gen Hosp, Ctr Res Neurosci, Montreal, PQ H3A 2T5, Canada

来源：

MOVEMENT DISORDERS | 2004年 / 19卷 / 01期

关键词：

restless legs syndrome (RLS); genetics; neurotensin (NTS); mutational analysis; chromosome; 12;

D O I：

10.1002/mds.10617

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A susceptibility locus for restless legs syndrome (RLS) has been identified recently on chromosome 12q. This region contains several transcribed genes including neurotensin (NTS), which, as an important modulator of the dopaminergic transmission, represents a strong functional and positional candidate in the context of RLS. In this study, NTS was evaluated for mutational analysis. A panel of 19 individuals from 4 families supporting linkage to 12q was investigated using a combined denaturing high-performance liquid chromatography (dHPLC) and direct sequencing method. Analysis of the NTS genomic sequence revealed 2 intronic polymorphisms and 1 variant located in the 5' untranslated region (UTR). None of the observed variants co-segregated with RLS and no disease-associated polymorphisms were detected in any of the analyzed families. Based on these results, it is unlikely that NTS is the gene responsible for RLS in chromosome 12-linked families. (C) 2003 Movement Disorder Society.

引用

页码：90 / 94

页数：5

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