MovDisordV3, Main, Exploration, bibRecord, 004873

Analysis of the coding and the 5′ flanking regions of the α‐synuclein gene in patients with Parkinson's disease

Identifieur interne : 004873 ( Main/Exploration ); précédent : 004872; suivant : 004874

Analysis of the coding and the 5′ flanking regions of the α‐synuclein gene in patients with Parkinson's disease

Auteurs : Pau Pastor [Espagne] ; Esteban Mu Oz [Espagne] ; Mario Ezquerra [Espagne] ; Victor Obach [Espagne] ; María José Martí [Espagne] ; Francesc Valldeoriola [Espagne] ; Eduard Tolosa [Espagne] ; Rafael Oliva [Espagne]

Source :

Movement Disorders [ 0885-3185 ] ; 2001-11.

RBID : ISTEX:9AC4E9AD44FB3593020447271E0DF3079E2D1F20

Descripteurs français

Pascal (Inist)
- Epidémiologie, Génétique, Homme, Parkinson maladie, α-Synucléine.
Wicri :
- geographic : Espagne.
- topic : Génétique, Homme.

English descriptors

KwdEn :
- Aged, Aged, 80 and over, Base Pair Mismatch, Case-Control Studies, Cytosine, Epidemiology, Essential Tremor (genetics), Female, Gene Expression Regulation, Genetic Predisposition to Disease, Genetics, Genotype, Guanine, Human, Humans, Male, Middle Aged, Mutation (genetics), Nerve Tissue Proteins (genetics), Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Pedigree, Phosphoproteins (genetics), Polymorphism, Genetic (genetics), Polymorphism, Single-Stranded Conformational, Spain, Synuclein, Synucleins, alpha-Synuclein, genetics, α‐synuclein.
MESH :
- chemical , genetics : Nerve Tissue Proteins, Phosphoproteins.
- chemical : Cytosine, Guanine, Synucleins, alpha-Synuclein.
- geographic : Spain.
- genetics : Essential Tremor, Mutation, Parkinson Disease, Polymorphism, Genetic.
- Aged, Aged, 80 and over, Base Pair Mismatch, Case-Control Studies, Female, Gene Expression Regulation, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Pedigree, Polymorphism, Single-Stranded Conformational.

Abstract

Missense mutations of the α‐synuclein gene have been reported to explain a few kindreds with autosomal dominant Parkinson's disease (PD). In order to identify mutations in our PD patients, we have screened the coding region and 5′flanking region of the gene. DNA samples from 50 patients with familial PD were screened via single‐strand conformation polymorphism (SSCP) for mutations in the α‐synuclein gene. The 5′ flanking region was examined in 117 additional PD patients (27 patients with unclear family history for PD, and 90 patients without family history) and in 169 control subjects. We found one change (G199A) in exon 4 in one family with a pattern of autosomal dominant PD. However, this mutation did not result in an amino acid substitution (valine) and did not segregate completely with PD. The analysis of the 5′ flanking region also showed a new polymorphism, a nucleotide insertion (− 164insA) linked to a nucleotide substitution (C−116G), in patients and in controls. The −164insA/C−116G allele was present in 52.3% of the patients and in 47.6% of the controls. We did not find significant differences regarding the allelic and genotype frequencies between PD and control groups. These results suggest that mutations in the α‐synuclein gene are a very rare cause of familial PD and that the novel −164insA/C−116G polymorphism in the 5′ flanking region does not confer susceptibility to develop PD. © 2001 Movement Disorder Society.

Url:

https://api.istex.fr/document/9AC4E9AD44FB3593020447271E0DF3079E2D1F20/fulltext/pdf

DOI: 10.1002/mds.1198

Affiliations:

Le document en format XML

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<term>Epidemiology</term>
<term>Essential Tremor (genetics)</term>
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<term>Gene Expression Regulation</term>
<term>Genetic Predisposition to Disease</term>
<term>Genetics</term>
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<term>Humans</term>
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<term>Parkinson disease</term>
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<front><div type="abstract" xml:lang="en">Missense mutations of the α‐synuclein gene have been reported to explain a few kindreds with autosomal dominant Parkinson's disease (PD). In order to identify mutations in our PD patients, we have screened the coding region and 5′flanking region of the gene. DNA samples from 50 patients with familial PD were screened via single‐strand conformation polymorphism (SSCP) for mutations in the α‐synuclein gene. The 5′ flanking region was examined in 117 additional PD patients (27 patients with unclear family history for PD, and 90 patients without family history) and in 169 control subjects. We found one change (G199A) in exon 4 in one family with a pattern of autosomal dominant PD. However, this mutation did not result in an amino acid substitution (valine) and did not segregate completely with PD. The analysis of the 5′ flanking region also showed a new polymorphism, a nucleotide insertion (− 164insA) linked to a nucleotide substitution (C−116G), in patients and in controls. The −164insA/C−116G allele was present in 52.3% of the patients and in 47.6% of the controls. We did not find significant differences regarding the allelic and genotype frequencies between PD and control groups. These results suggest that mutations in the α‐synuclein gene are a very rare cause of familial PD and that the novel −164insA/C−116G polymorphism in the 5′ flanking region does not confer susceptibility to develop PD. © 2001 Movement Disorder Society.</div>
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Movement Disorders (revue)

Analysis of the coding and the 5′ flanking regions of the α‐synuclein gene in patients with Parkinson's disease

Analysis of the coding and the 5′ flanking regions of the α‐synuclein gene in patients with Parkinson's disease

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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