Mutation frequencies of the cytochrome CYP2D6 gene in Parkinson disease patients and in families.
Identifieur interne : 001572 ( PubMed/Corpus ); précédent : 001571; suivant : 001573Mutation frequencies of the cytochrome CYP2D6 gene in Parkinson disease patients and in families.
Auteurs : G. Lucotte ; J C Turpin ; N. Gérard ; S. Panserat ; R. KrishnamoorthySource :
- American journal of medical genetics [ 0148-7299 ] ; 1996.
English descriptors
- KwdEn :
- Aged, Confidence Intervals, Cytochrome P-450 CYP2D6 (genetics), Family, Female, Genotype, Humans, Male, Mutation, Parkinson Disease (enzymology), Parkinson Disease (epidemiology), Parkinson Disease (genetics), Pedigree, Phenotype, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Reference Values, Risk Factors.
- MESH :
- chemical , genetics : Cytochrome P-450 CYP2D6.
- enzymology : Parkinson Disease.
- epidemiology : Parkinson Disease.
- genetics : Parkinson Disease.
- Aged, Confidence Intervals, Family, Female, Genotype, Humans, Male, Mutation, Pedigree, Phenotype, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Reference Values, Risk Factors.
Abstract
The frequencies of five mutations of the debrisoquine 4-hydroxylase (CYP2D6) gene (mutations D6-A, B, C, D, and T), corresponding to poor metabolizer (PM) phenotypes, were determined by restriction fragment length polymorphism (RFLP) and polymerase chain reaction (PCR) in 47 patients with Parkinson disease, and compared with the findings in 47 healthy controls. These mutant alleles were about twice as frequent among patients as in controls, with an approximate relative risk ratio of 2.12 (95% confidence interval, 1.41-2.62). There seem to be no significant differences in frequencies of mutant genotypes in patients among gender and modalities of response with levodopa therapy; but frequency of the mutations was slightly enhanced after age-at-onset of 60 years. Mutations D6-B, D, and T were detected in 7 patients belonging to 10 Parkinson pedigrees.
DOI: 10.1002/(SICI)1096-8628(19960726)67:4<361::AID-AJMG8>3.0.CO;2-P
PubMed: 8837703
Links to Exploration step
pubmed:8837703Le document en format XML
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Krishnamoorthy</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1996">1996</date><idno type="RBID">pubmed:8837703</idno><idno type="pmid">8837703</idno><idno type="doi">10.1002/(SICI)1096-8628(19960726)67:4<361::AID-AJMG8>3.0.CO;2-P</idno><idno type="wicri:Area/PubMed/Corpus">001572</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001572</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Mutation frequencies of the cytochrome CYP2D6 gene in Parkinson disease patients and in families.</title><author><name sortKey="Lucotte, G" sort="Lucotte, G" uniqKey="Lucotte G" first="G" last="Lucotte">G. Lucotte</name><affiliation><nlm:affiliation>Regional Center of Neurogenetics, CHR of Reims, France.</nlm:affiliation></affiliation></author><author><name sortKey="Turpin, J C" sort="Turpin, J C" uniqKey="Turpin J" first="J C" last="Turpin">J C Turpin</name></author><author><name sortKey="Gerard, N" sort="Gerard, N" uniqKey="Gerard N" first="N" last="Gérard">N. Gérard</name></author><author><name sortKey="Panserat, S" sort="Panserat, S" uniqKey="Panserat S" first="S" last="Panserat">S. Panserat</name></author><author><name sortKey="Krishnamoorthy, R" sort="Krishnamoorthy, R" uniqKey="Krishnamoorthy R" first="R" last="Krishnamoorthy">R. Krishnamoorthy</name></author></analytic><series><title level="j">American journal of medical genetics</title><idno type="ISSN">0148-7299</idno><imprint><date when="1996" type="published">1996</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Confidence Intervals</term><term>Cytochrome P-450 CYP2D6 (genetics)</term><term>Family</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Parkinson Disease (enzymology)</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (genetics)</term><term>Pedigree</term><term>Phenotype</term><term>Polymerase Chain Reaction</term><term>Polymorphism, Restriction Fragment Length</term><term>Reference Values</term><term>Risk Factors</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cytochrome P-450 CYP2D6</term></keywords><keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Confidence Intervals</term><term>Family</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Pedigree</term><term>Phenotype</term><term>Polymerase Chain Reaction</term><term>Polymorphism, Restriction Fragment Length</term><term>Reference Values</term><term>Risk Factors</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The frequencies of five mutations of the debrisoquine 4-hydroxylase (CYP2D6) gene (mutations D6-A, B, C, D, and T), corresponding to poor metabolizer (PM) phenotypes, were determined by restriction fragment length polymorphism (RFLP) and polymerase chain reaction (PCR) in 47 patients with Parkinson disease, and compared with the findings in 47 healthy controls. These mutant alleles were about twice as frequent among patients as in controls, with an approximate relative risk ratio of 2.12 (95% confidence interval, 1.41-2.62). There seem to be no significant differences in frequencies of mutant genotypes in patients among gender and modalities of response with levodopa therapy; but frequency of the mutations was slightly enhanced after age-at-onset of 60 years. Mutations D6-B, D, and T were detected in 7 patients belonging to 10 Parkinson pedigrees.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">8837703</PMID><DateCreated><Year>1996</Year><Month>12</Month><Day>13</Day></DateCreated><DateCompleted><Year>1996</Year><Month>12</Month><Day>13</Day></DateCompleted><DateRevised><Year>2004</Year><Month>11</Month><Day>17</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0148-7299</ISSN><JournalIssue CitedMedium="Print"><Volume>67</Volume><Issue>4</Issue><PubDate><Year>1996</Year><Month>Jul</Month><Day>26</Day></PubDate></JournalIssue><Title>American journal of medical genetics</Title><ISOAbbreviation>Am. J. Med. Genet.</ISOAbbreviation></Journal><ArticleTitle>Mutation frequencies of the cytochrome CYP2D6 gene in Parkinson disease patients and in families.</ArticleTitle><Pagination><MedlinePgn>361-5</MedlinePgn></Pagination><Abstract><AbstractText>The frequencies of five mutations of the debrisoquine 4-hydroxylase (CYP2D6) gene (mutations D6-A, B, C, D, and T), corresponding to poor metabolizer (PM) phenotypes, were determined by restriction fragment length polymorphism (RFLP) and polymerase chain reaction (PCR) in 47 patients with Parkinson disease, and compared with the findings in 47 healthy controls. These mutant alleles were about twice as frequent among patients as in controls, with an approximate relative risk ratio of 2.12 (95% confidence interval, 1.41-2.62). There seem to be no significant differences in frequencies of mutant genotypes in patients among gender and modalities of response with levodopa therapy; but frequency of the mutations was slightly enhanced after age-at-onset of 60 years. Mutations D6-B, D, and T were detected in 7 patients belonging to 10 Parkinson pedigrees.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Lucotte</LastName><ForeName>G</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Regional Center of Neurogenetics, CHR of Reims, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Turpin</LastName><ForeName>J C</ForeName><Initials>JC</Initials></Author><Author ValidYN="Y"><LastName>Gérard</LastName><ForeName>N</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Panserat</LastName><ForeName>S</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Krishnamoorthy</LastName><ForeName>R</ForeName><Initials>R</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Am J Med Genet</MedlineTA><NlmUniqueID>7708900</NlmUniqueID><ISSNLinking>0148-7299</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 1.14.14.1</RegistryNumber><NameOfSubstance UI="D019389">Cytochrome P-450 CYP2D6</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016001" MajorTopicYN="N">Confidence Intervals</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D019389" MajorTopicYN="N">Cytochrome P-450 CYP2D6</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005190" MajorTopicYN="N">Family</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005838" MajorTopicYN="N">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="Y">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000201" MajorTopicYN="Y">enzymology</QualifierName><QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016133" MajorTopicYN="N">Polymerase Chain Reaction</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012150" MajorTopicYN="Y">Polymorphism, Restriction Fragment Length</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012016" MajorTopicYN="N">Reference Values</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012307" MajorTopicYN="N">Risk Factors</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1996</Year><Month>7</Month><Day>26</Day></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2000</Year><Month>6</Month><Day>20</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>1996</Year><Month>7</Month><Day>26</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">8837703</ArticleId><ArticleId IdType="pii">10.1002/(SICI)1096-8628(19960726)67:4<361::AID-AJMG8>3.0.CO;2-P</ArticleId><ArticleId IdType="doi">10.1002/(SICI)1096-8628(19960726)67:4<361::AID-AJMG8>3.0.CO;2-P</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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