Mutational analysis of neurotensin in familial restless legs syndrome.
Identifieur interne : 000C93 ( Ncbi/Checkpoint ); précédent : 000C92; suivant : 000C94Mutational analysis of neurotensin in familial restless legs syndrome.
Auteurs : Alex Desautels [Canada] ; Gustavo Turecki ; Lan Xiong ; Daniel Rochefort ; Jacques Montplaisir ; Guy A. RouleauSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2004.
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), Neurotensin (genetics), Paresthesia (diagnosis), Paresthesia (genetics), Pedigree, Phenotype, Polymerase Chain Reaction, Polymorphism, Genetic (genetics), Restless Legs Syndrome (diagnosis), Restless Legs Syndrome (genetics), Sequence Analysis, DNA.
- 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.
DOI: 10.1002/mds.10617
PubMed: 14743366
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutational analysis of neurotensin in familial restless legs syndrome.</title><author><name sortKey="Desautels, Alex" sort="Desautels, Alex" uniqKey="Desautels A" first="Alex" last="Desautels">Alex Desautels</name><affiliation wicri:level="1"><nlm:affiliation>Centre d'étude du sommeil, Hôpital du Sacré-Coeur de Montréal and Centre de recherche en sciences neurologiques, Université de Montréal, Québec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre d'étude du sommeil, Hôpital du Sacré-Coeur de Montréal and Centre de recherche en sciences neurologiques, Université de Montréal, Québec</wicri:regionArea><wicri:noRegion>Québec</wicri:noRegion></affiliation></author><author><name sortKey="Turecki, Gustavo" sort="Turecki, Gustavo" uniqKey="Turecki G" first="Gustavo" last="Turecki">Gustavo Turecki</name></author><author><name sortKey="Xiong, Lan" sort="Xiong, Lan" uniqKey="Xiong L" first="Lan" last="Xiong">Lan Xiong</name></author><author><name sortKey="Rochefort, Daniel" sort="Rochefort, Daniel" uniqKey="Rochefort D" first="Daniel" last="Rochefort">Daniel Rochefort</name></author><author><name sortKey="Montplaisir, Jacques" sort="Montplaisir, Jacques" uniqKey="Montplaisir J" first="Jacques" last="Montplaisir">Jacques Montplaisir</name></author><author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2004">2004</date><idno type="RBID">pubmed:14743366</idno><idno type="pmid">14743366</idno><idno type="doi">10.1002/mds.10617</idno><idno type="wicri:Area/PubMed/Corpus">003571</idno><idno type="wicri:Area/PubMed/Curation">003571</idno><idno type="wicri:Area/PubMed/Checkpoint">003400</idno><idno type="wicri:Area/Ncbi/Merge">000C93</idno><idno type="wicri:Area/Ncbi/Curation">000C93</idno><idno type="wicri:Area/Ncbi/Checkpoint">000C93</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Mutational analysis of neurotensin in familial restless legs syndrome.</title><author><name sortKey="Desautels, Alex" sort="Desautels, Alex" uniqKey="Desautels A" first="Alex" last="Desautels">Alex Desautels</name><affiliation wicri:level="1"><nlm:affiliation>Centre d'étude du sommeil, Hôpital du Sacré-Coeur de Montréal and Centre de recherche en sciences neurologiques, Université de Montréal, Québec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre d'étude du sommeil, Hôpital du Sacré-Coeur de Montréal and Centre de recherche en sciences neurologiques, Université de Montréal, Québec</wicri:regionArea><wicri:noRegion>Québec</wicri:noRegion></affiliation></author><author><name sortKey="Turecki, Gustavo" sort="Turecki, Gustavo" uniqKey="Turecki G" first="Gustavo" last="Turecki">Gustavo Turecki</name></author><author><name sortKey="Xiong, Lan" sort="Xiong, Lan" uniqKey="Xiong L" first="Lan" last="Xiong">Lan Xiong</name></author><author><name sortKey="Rochefort, Daniel" sort="Rochefort, Daniel" uniqKey="Rochefort D" first="Daniel" last="Rochefort">Daniel Rochefort</name></author><author><name sortKey="Montplaisir, Jacques" sort="Montplaisir, Jacques" uniqKey="Montplaisir J" first="Jacques" last="Montplaisir">Jacques Montplaisir</name></author><author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2004" type="published">2004</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>5' Untranslated Regions (genetics)</term><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><term>Neurotensin (genetics)</term><term>Paresthesia (diagnosis)</term><term>Paresthesia (genetics)</term><term>Pedigree</term><term>Phenotype</term><term>Polymerase Chain Reaction</term><term>Polymorphism, Genetic (genetics)</term><term>Restless Legs Syndrome (diagnosis)</term><term>Restless Legs Syndrome (genetics)</term><term>Sequence Analysis, DNA</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>5' Untranslated Regions</term><term>Neurotensin</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Paresthesia</term><term>Restless Legs Syndrome</term></keywords><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></keywords><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></keywords></textClass></profileDesc></teiHeader><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.</div></front></TEI><affiliations><list><country><li>Canada</li></country></list><tree><noCountry><name sortKey="Montplaisir, Jacques" sort="Montplaisir, Jacques" uniqKey="Montplaisir J" first="Jacques" last="Montplaisir">Jacques Montplaisir</name><name sortKey="Rochefort, Daniel" sort="Rochefort, Daniel" uniqKey="Rochefort D" first="Daniel" last="Rochefort">Daniel Rochefort</name><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</name><name sortKey="Turecki, Gustavo" sort="Turecki, Gustavo" uniqKey="Turecki G" first="Gustavo" last="Turecki">Gustavo Turecki</name><name sortKey="Xiong, Lan" sort="Xiong, Lan" uniqKey="Xiong L" first="Lan" last="Xiong">Lan Xiong</name></noCountry><country name="Canada"><noRegion><name sortKey="Desautels, Alex" sort="Desautels, Alex" uniqKey="Desautels A" first="Alex" last="Desautels">Alex Desautels</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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