MovDisordV3, Main, Exploration, bibRecord, 003C48

Mutational analysis of neurotensin in familial restless legs syndrome

Identifieur interne : 003C48 ( Main/Exploration ); précédent : 003C47; suivant : 003C49

Mutational analysis of neurotensin in familial restless legs syndrome

Auteurs : Alex Desautels [Canada] ; Gustavo Turecki [Canada] ; Lan Xiong [Canada] ; Daniel Rochefort [Canada] ; Jacques Montplaisir [Canada] ; Guy A. Rouleau [Canada]

Source :

Movement Disorders [ 0885-3185 ] ; 2004-01.

RBID : ISTEX:51232FF5050FCA31F63FA0A3372F55B2A01CEB1C

Descripteurs français

Pascal (Inist)
- Impatience membre inférieur syndrome, Neurotensine, Système nerveux pathologie.

English descriptors

KwdEn :
- 5' Untranslated Regions (genetics), Chromatography, High Pressure Liquid, Chromosome Mapping, Chromosomes, Human, Pair 12, DNA Mutational Analysis, Exons (genetics), Genetic Predisposition to Disease (genetics), Genetic Variation, Genotype, Humans, Introns (genetics), Nervous system diseases, Neurotensin, Neurotensin (genetics), Paresthesia (diagnosis), Paresthesia (genetics), Pedigree, Phenotype, Polymerase Chain Reaction, Polymorphism, Genetic (genetics), Restless Legs Syndrome (diagnosis), Restless Legs Syndrome (genetics), Restless legs syndrome, Sequence Analysis, DNA, chromosome 12, genetics, mutational analysis, neurotensin (NTS), restless legs syndrome (RLS).
MESH :
- chemical , genetics : 5' Untranslated Regions, Neurotensin.
- diagnosis : Paresthesia, Restless Legs Syndrome.
- genetics : Exons, Genetic Predisposition to Disease, Introns, Paresthesia, Polymorphism, Genetic, Restless Legs Syndrome.
- Chromatography, High Pressure Liquid, Chromosome Mapping, Chromosomes, Human, Pair 12, DNA Mutational Analysis, Genetic Variation, Genotype, Humans, Pedigree, Phenotype, Polymerase Chain Reaction, Sequence Analysis, DNA.

Abstract

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. © 2003 Movement Disorder Society

Url:

https://api.istex.fr/document/51232FF5050FCA31F63FA0A3372F55B2A01CEB1C/fulltext/pdf

DOI: 10.1002/mds.10617

Affiliations:

Le document en format XML

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<term>Chromatography, High Pressure Liquid</term>
<term>Chromosome Mapping</term>
<term>Chromosomes, Human, Pair 12</term>
<term>DNA Mutational Analysis</term>
<term>Exons (genetics)</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Genetic Variation</term>
<term>Genotype</term>
<term>Humans</term>
<term>Introns (genetics)</term>
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<term>Neurotensin (genetics)</term>
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<term>Phenotype</term>
<term>Polymerase Chain Reaction</term>
<term>Polymorphism, Genetic (genetics)</term>
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<term>Restless Legs Syndrome (genetics)</term>
<term>Restless legs syndrome</term>
<term>Sequence Analysis, DNA</term>
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<term>genetics</term>
<term>mutational analysis</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term>
<term>Genetic Predisposition to Disease</term>
<term>Introns</term>
<term>Paresthesia</term>
<term>Polymorphism, Genetic</term>
<term>Restless Legs Syndrome</term>
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<keywords scheme="MESH" xml:lang="en"><term>Chromatography, High Pressure Liquid</term>
<term>Chromosome Mapping</term>
<term>Chromosomes, Human, Pair 12</term>
<term>DNA Mutational Analysis</term>
<term>Genetic Variation</term>
<term>Genotype</term>
<term>Humans</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Polymerase Chain Reaction</term>
<term>Sequence Analysis, DNA</term>
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<front><div type="abstract" xml:lang="en">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. © 2003 Movement Disorder Society</div>
</front>
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Movement Disorders (revue)

Mutational analysis of neurotensin in familial restless legs syndrome

Mutational analysis of neurotensin in familial restless legs syndrome

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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