ParkinsonCanadaV1, Main, Exploration, bibRecord, 003057

Segmental linkage disequilibrium within the dopamine transporter gene

Identifieur interne : 003057 ( Main/Exploration ); précédent : 003056; suivant : 003058

Segmental linkage disequilibrium within the dopamine transporter gene

Auteurs : T. A. Greenwood [États-Unis] ; M. Alexander [États-Unis] ; P. E. Keck [États-Unis] ; S. Mcelroy [États-Unis] ; A. D. Sadovnick [Canada] ; R. A. Remick [Canada] ; S. H. Jr Shaw [États-Unis] ; J. R. Kelsoe [États-Unis]

Source :

Molecular psychiatry [ 1359-4184 ] ; 2002.

RBID : Pascal:02-0184647

Descripteurs français

Pascal (Inist)
- Dopamine, Equilibre linkage, Variabilité génétique, Polymorphisme, Génétique, Trouble psychiatrique, Trouble neurologique, Homme, Pathogénie, Déterminisme génétique, Gène DAT.
Wicri :
- topic : Génétique, Homme.

English descriptors

KwdEn :
- Dopamine, Dopamine Transporter Gene, Genetic determinism, Genetic variability, Genetics, Human, Linkage equilibrium, Mental disorder, Neurological disorder, Pathogenesis, Polymorphism.

Abstract

The dopamine transporter gene (DAT) has been implicated in a variety of disorders, including bipolar disorder, attention-deficit hyperactivity disorder, cocaine-induced paranoia, Tourette's syndrome, and Parkinson's disease. As no clear functional polymorphism has been identified to date, studies rely on linkage disequilibrium (LD) to assess the possible genetic contribution of DAT to the various disorders. A better understanding of the complex structure of LD across the gene is thus critical for an accurate interpretation of the results of such studies, and may facilitate the mapping of the actual functional variants. In the process of characterizing the extent of variation within the DAT gene, we have identified a number of single nucleotide polymorphisms (SNPs) suitable for LD studies, 14 of which have been analyzed, along with a 3' repeat polymorphism, in a sample of 120 parent-proband triads. Calculations of pairwise LD between the SNPs in the parental haplotypes revealed a high degree of LD (P < 0.00001) in the 5' (distal promoter through intron 6) and 3' (exon 9 through exon 15) regions of DAT. This segmental LD pattern is maintained over approximately 27 kb and 20 kb in these two regions, respectively, with very little significant LD between them, possibly due to the presence of a recombination hotspot located near the middle of the gene. These analyses of the DAT gene thus reveal a complex structure resulting from both recombination and mutation, knowledge of which may be invaluable to the design of future studies.

Affiliations:

Canada, États-Unis

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

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Le document en format XML

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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dopamine</term>
<term>Dopamine Transporter Gene</term>
<term>Genetic determinism</term>
<term>Genetic variability</term>
<term>Genetics</term>
<term>Human</term>
<term>Linkage equilibrium</term>
<term>Mental disorder</term>
<term>Neurological disorder</term>
<term>Pathogenesis</term>
<term>Polymorphism</term>
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<term>Variabilité génétique</term>
<term>Polymorphisme</term>
<term>Génétique</term>
<term>Trouble psychiatrique</term>
<term>Trouble neurologique</term>
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<term>Pathogénie</term>
<term>Déterminisme génétique</term>
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<front><div type="abstract" xml:lang="en">The dopamine transporter gene (DAT) has been implicated in a variety of disorders, including bipolar disorder, attention-deficit hyperactivity disorder, cocaine-induced paranoia, Tourette's syndrome, and Parkinson's disease. As no clear functional polymorphism has been identified to date, studies rely on linkage disequilibrium (LD) to assess the possible genetic contribution of DAT to the various disorders. A better understanding of the complex structure of LD across the gene is thus critical for an accurate interpretation of the results of such studies, and may facilitate the mapping of the actual functional variants. In the process of characterizing the extent of variation within the DAT gene, we have identified a number of single nucleotide polymorphisms (SNPs) suitable for LD studies, 14 of which have been analyzed, along with a 3' repeat polymorphism, in a sample of 120 parent-proband triads. Calculations of pairwise LD between the SNPs in the parental haplotypes revealed a high degree of LD (P < 0.00001) in the 5' (distal promoter through intron 6) and 3' (exon 9 through exon 15) regions of DAT. This segmental LD pattern is maintained over approximately 27 kb and 20 kb in these two regions, respectively, with very little significant LD between them, possibly due to the presence of a recombination hotspot located near the middle of the gene. These analyses of the DAT gene thus reveal a complex structure resulting from both recombination and mutation, knowledge of which may be invaluable to the design of future studies.</div>
</front>
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	La maladie de Parkinson au Canada (serveur d'exploration)
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La maladie de Parkinson au Canada (serveur d'exploration)

Segmental linkage disequilibrium within the dopamine transporter gene

Segmental linkage disequilibrium within the dopamine transporter gene

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