MovDisordV3, Main, Merge, bibRecord, 006F60

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

Identifieur interne : 006F60 ( Main/Merge ); précédent : 006F59; suivant : 006F61

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 Munoz [Espagne] ; Mario Ezquerra [Espagne] ; Victor Obach [Espagne] ; Maria José Marti [Espagne] ; Francese Valldeoriola [Espagne] ; Eduard Tolosa [Espagne] ; Rafael Oliva [Espagne]

Source :

Movement disorders [ 0885-3185 ] ; 2001.

RBID : Pascal:02-0176673

Descripteurs français

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

English descriptors

KwdEn :
- Epidemiology, Genetics, Human, Parkinson disease, Synuclein.

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 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.

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Pascal:02-0176673

Le document en format XML

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<author><name sortKey="Marti, Maria Jose" sort="Marti, Maria Jose" uniqKey="Marti M" first="Maria José" last="Marti">Maria José Marti</name>
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<author><name sortKey="Valldeoriola, Francese" sort="Valldeoriola, Francese" uniqKey="Valldeoriola F" first="Francese" last="Valldeoriola">Francese Valldeoriola</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Malalties del Sistema Nerviós, Hospital Clínic, IDIBAPS</s1>
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<series><title level="j" type="main">Movement disorders</title>
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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 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.</div>
</front>
</TEI>
<affiliations><list><country><li>Espagne</li>
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<name sortKey="Ezquerra, Mario" sort="Ezquerra, Mario" uniqKey="Ezquerra M" first="Mario" last="Ezquerra">Mario Ezquerra</name>
<name sortKey="Marti, Maria Jose" sort="Marti, Maria Jose" uniqKey="Marti M" first="Maria José" last="Marti">Maria José Marti</name>
<name sortKey="Munoz, Esteban" sort="Munoz, Esteban" uniqKey="Munoz E" first="Esteban" last="Munoz">Esteban Munoz</name>
<name sortKey="Obach, Victor" sort="Obach, Victor" uniqKey="Obach V" first="Victor" last="Obach">Victor Obach</name>
<name sortKey="Oliva, Rafael" sort="Oliva, Rafael" uniqKey="Oliva R" first="Rafael" last="Oliva">Rafael Oliva</name>
<name sortKey="Tolosa, Eduard" sort="Tolosa, Eduard" uniqKey="Tolosa E" first="Eduard" last="Tolosa">Eduard Tolosa</name>
<name sortKey="Valldeoriola, Francese" sort="Valldeoriola, Francese" uniqKey="Valldeoriola F" first="Francese" last="Valldeoriola">Francese Valldeoriola</name>
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	Movement Disorders (revue)
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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...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri