Analysis of the coding and the 5' flanking regions of the alpha-synuclein gene in patients with Parkinson's disease.
Identifieur interne : 003C31 ( PubMed/Curation ); précédent : 003C30; suivant : 003C32Analysis of the coding and the 5' flanking regions of the alpha-synuclein gene in patients with Parkinson's disease.
Auteurs : P. Pastor [Espagne] ; E. Mu Oz ; M. Ezquerra ; V. Obach ; M J Martí ; F. Valldeoriola ; E. Tolosa ; R. OlivaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2001.
Descripteurs français
- Wicri :
- geographic : Espagne.
English descriptors
- KwdEn :
- Aged, Aged, 80 and over, Base Pair Mismatch, Case-Control Studies, Cytosine, Essential Tremor (genetics), Female, Gene Expression Regulation, Genetic Predisposition to Disease, Genotype, Guanine, Humans, Male, Middle Aged, Mutation (genetics), Nerve Tissue Proteins (genetics), Parkinson Disease (genetics), Pedigree, Phosphoproteins (genetics), Polymorphism, Genetic (genetics), Polymorphism, Single-Stranded Conformational, Spain, Synucleins, alpha-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 alpha-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 alpha-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 alpha-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.
PubMed: 11748744
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Mu Oz</name></author><author><name sortKey="Ezquerra, M" sort="Ezquerra, M" uniqKey="Ezquerra M" first="M" last="Ezquerra">M. Ezquerra</name></author><author><name sortKey="Obach, V" sort="Obach, V" uniqKey="Obach V" first="V" last="Obach">V. Obach</name></author><author><name sortKey="Marti, M J" sort="Marti, M J" uniqKey="Marti M" first="M J" last="Martí">M J Martí</name></author><author><name sortKey="Valldeoriola, F" sort="Valldeoriola, F" uniqKey="Valldeoriola F" first="F" last="Valldeoriola">F. Valldeoriola</name></author><author><name sortKey="Tolosa, E" sort="Tolosa, E" uniqKey="Tolosa E" first="E" last="Tolosa">E. Tolosa</name></author><author><name sortKey="Oliva, R" sort="Oliva, R" uniqKey="Oliva R" first="R" last="Oliva">R. Oliva</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2001">2001</date><idno type="RBID">pubmed:11748744</idno><idno type="pmid">11748744</idno><idno type="wicri:Area/PubMed/Corpus">003C31</idno><idno type="wicri:Area/PubMed/Curation">003C31</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Analysis of the coding and the 5' flanking regions of the alpha-synuclein gene in patients with Parkinson's disease.</title><author><name sortKey="Pastor, P" sort="Pastor, P" uniqKey="Pastor P" first="P" last="Pastor">P. Pastor</name><affiliation wicri:level="1"><nlm:affiliation>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Malalties del Sistema Nerviós, Hospital Clínic, IDIBAPS, Barcelona, Spain. ppastorm@meditex.es</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Malalties del Sistema Nerviós, Hospital Clínic, IDIBAPS, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Mu Oz, E" sort="Mu Oz, E" uniqKey="Mu Oz E" first="E" last="Mu Oz">E. Mu Oz</name></author><author><name sortKey="Ezquerra, M" sort="Ezquerra, M" uniqKey="Ezquerra M" first="M" last="Ezquerra">M. Ezquerra</name></author><author><name sortKey="Obach, V" sort="Obach, V" uniqKey="Obach V" first="V" last="Obach">V. Obach</name></author><author><name sortKey="Marti, M J" sort="Marti, M J" uniqKey="Marti M" first="M J" last="Martí">M J Martí</name></author><author><name sortKey="Valldeoriola, F" sort="Valldeoriola, F" uniqKey="Valldeoriola F" first="F" last="Valldeoriola">F. Valldeoriola</name></author><author><name sortKey="Tolosa, E" sort="Tolosa, E" uniqKey="Tolosa E" first="E" last="Tolosa">E. Tolosa</name></author><author><name sortKey="Oliva, R" sort="Oliva, R" uniqKey="Oliva R" first="R" last="Oliva">R. Oliva</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="2001" type="published">2001</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Aged, 80 and over</term><term>Base Pair Mismatch</term><term>Case-Control Studies</term><term>Cytosine</term><term>Essential Tremor (genetics)</term><term>Female</term><term>Gene Expression Regulation</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Guanine</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Nerve Tissue Proteins (genetics)</term><term>Parkinson Disease (genetics)</term><term>Pedigree</term><term>Phosphoproteins (genetics)</term><term>Polymorphism, Genetic (genetics)</term><term>Polymorphism, Single-Stranded Conformational</term><term>Spain</term><term>Synucleins</term><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term><term>Phosphoproteins</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Cytosine</term><term>Guanine</term><term>Synucleins</term><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Spain</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Essential Tremor</term><term>Mutation</term><term>Parkinson Disease</term><term>Polymorphism, Genetic</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Aged, 80 and over</term><term>Base Pair Mismatch</term><term>Case-Control Studies</term><term>Female</term><term>Gene Expression Regulation</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Polymorphism, Single-Stranded Conformational</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Espagne</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Missense mutations of the alpha-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 alpha-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 alpha-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><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">11748744</PMID><DateCreated><Year>2001</Year><Month>12</Month><Day>18</Day></DateCreated><DateCompleted><Year>2002</Year><Month>01</Month><Day>25</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>16</Volume><Issue>6</Issue><PubDate><Year>2001</Year><Month>Nov</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. 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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 alpha-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.</AbstractText><CopyrightInformation>Copyright 2001 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Pastor</LastName><ForeName>P</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Malalties del Sistema Nerviós, Hospital Clínic, IDIBAPS, Barcelona, Spain. ppastorm@meditex.es</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Muñoz</LastName><ForeName>E</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Ezquerra</LastName><ForeName>M</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Obach</LastName><ForeName>V</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><LastName>Martí</LastName><ForeName>M J</ForeName><Initials>MJ</Initials></Author><Author ValidYN="Y"><LastName>Valldeoriola</LastName><ForeName>F</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Tolosa</LastName><ForeName>E</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Oliva</LastName><ForeName>R</ForeName><Initials>R</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009419">Nerve 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over</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D020137">Base Pair Mismatch</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016022">Case-Control Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003596">Cytosine</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020329">Essential Tremor</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005786">Gene Expression Regulation</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020022">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006147">Guanine</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009419">Nerve Tissue Proteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010750">Phosphoproteins</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011110">Polymorphism, Genetic</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018807">Polymorphism, Single-Stranded Conformational</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D013030">Spain</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D051843">Synucleins</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D051844">alpha-Synuclein</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2001</Year><Month>12</Month><Day>19</Day><Hour>10</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2002</Year><Month>1</Month><Day>26</Day><Hour>10</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2001</Year><Month>12</Month><Day>19</Day><Hour>10</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">11748744</ArticleId><ArticleId IdType="pii">10.1002/mds.1198</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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