G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients
Identifieur interne : 001115 ( Main/Curation ); précédent : 001114; suivant : 001116G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients
Auteurs : H Deng [États-Unis] ; W Le [États-Unis] ; X Zhang [États-Unis] ; T Pan [États-Unis] ; J Jankovic [États-Unis]Source :
- Acta Neurologica Scandinavica [ 0001-6314 ] ; 2005-06.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : États-Unis.
- topic : Homme.
English descriptors
- KwdEn :
- Adult, Amino Acid Substitution, Caucasian, DNA Mutational Analysis, European Continental Ancestry Group (genetics), Female, G309D, Genetic Testing, Genome, Human, Human, Humans, Male, Middle Aged, Mutation, Mutation (genetics), Nervous system diseases, PINK1, Parkinson Disease (ethnology), Parkinson Disease (genetics), Parkinson Disease (metabolism), Parkinson disease, Parkinson's disease, Protein Kinases (genetics), United States, W437OPA.
- MESH :
- chemical , genetics : Protein Kinases.
- geographic : United States.
- ethnology : Parkinson Disease.
- genetics : European Continental Ancestry Group, Mutation, Parkinson Disease.
- metabolism : Parkinson Disease.
- Adult, Amino Acid Substitution, DNA Mutational Analysis, Female, Genetic Testing, Genome, Human, Humans, Male, Middle Aged.
Abstract
Objective – To determine whether the G309D and W437OPA mutations in PINK1 gene are present in American Caucasian population of patients with Parkinson's disease (PD). Methods – We searched for the G309D and W437OPA mutation by sequencing the regions of interest in the PINK1 gene in 237 unrelated Caucasian patients. Results – None of the 237 samples showed the G309D or W437OPA mutations. Conclusions – The G309D and W437OPA mutations in PINK1 gene probably do not represent common causes of familial or sporadic PD in a Caucasian population.
Url:
DOI: 10.1111/j.1600-0404.2005.00383.x
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<front><div type="abstract" xml:lang="en">Objective – To determine whether the G309D and W437OPA mutations in PINK1 gene are present in American Caucasian population of patients with Parkinson's disease (PD). Methods – We searched for the G309D and W437OPA mutation by sequencing the regions of interest in the PINK1 gene in 237 unrelated Caucasian patients. Results – None of the 237 samples showed the G309D or W437OPA mutations. Conclusions – The G309D and W437OPA mutations in PINK1 gene probably do not represent common causes of familial or sporadic PD in a Caucasian population.</div>
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<front><div type="abstract" xml:lang="en">Objective - To determine whether the G309D and W4370PA mutations in PINK1 gene are present in American Caucasian population of patients with Parkinson's disease (PD). Methods - We searched for the G309D and W4370PA mutation by sequencing the regions of interest in the PINK1 gene in 237 unrelated Caucasian patients. Results - None of the 237 samples showed the G309D or W4370PA mutations. Conclusions - The G309D and W4370PA mutations in PINK1 gene probably do not represent common causes of familial or sporadic PD in a Caucasian population.</div>
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<idno type="wicri:doubleKey">0001-6314:2005:Deng H:g:d:and</idno>
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<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients</title>
<author><name sortKey="Deng, H" sort="Deng, H" uniqKey="Deng H" first="H" last="Deng">H Deng</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, TX</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Le, W D" sort="Le, W D" uniqKey="Le W" first="W" last="Le">W Le</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, TX</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zhang, X" sort="Zhang, X" uniqKey="Zhang X" first="X" last="Zhang">X Zhang</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, TX</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pan, T H" sort="Pan, T H" uniqKey="Pan T" first="T" last="Pan">T Pan</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, TX</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jankovic, J" sort="Jankovic, J" uniqKey="Jankovic J" first="J" last="Jankovic">J Jankovic</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, TX</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Acta Neurologica Scandinavica</title>
<idno type="ISSN">0001-6314</idno>
<idno type="eISSN">1600-0404</idno>
<imprint><publisher>Munksgaard International Publishers</publisher>
<pubPlace>Oxford, UK</pubPlace>
<date type="published" when="2005-06">2005-06</date>
<biblScope unit="volume">111</biblScope>
<biblScope unit="issue">6</biblScope>
<biblScope unit="page" from="351">351</biblScope>
<biblScope unit="page" to="352">352</biblScope>
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<idno type="ISSN">0001-6314</idno>
</series>
<idno type="istex">7454C0DB6D7A9A8C21D4D4C54E1484E8BA4B5342</idno>
<idno type="DOI">10.1111/j.1600-0404.2005.00383.x</idno>
<idno type="ArticleID">ANE383</idno>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Amino Acid Substitution</term>
<term>Caucasian</term>
<term>DNA Mutational Analysis</term>
<term>European Continental Ancestry Group (genetics)</term>
<term>Female</term>
<term>G309D</term>
<term>Genetic Testing</term>
<term>Genome, Human</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation (genetics)</term>
<term>PINK1</term>
<term>Parkinson Disease (ethnology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson Disease (metabolism)</term>
<term>Parkinson's disease</term>
<term>Protein Kinases (genetics)</term>
<term>United States</term>
<term>W437OPA</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein Kinases</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>United States</term>
</keywords>
<keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>European Continental Ancestry Group</term>
<term>Mutation</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Amino Acid Substitution</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Genetic Testing</term>
<term>Genome, Human</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>États-Unis</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Objective – To determine whether the G309D and W437OPA mutations in PINK1 gene are present in American Caucasian population of patients with Parkinson's disease (PD). Methods – We searched for the G309D and W437OPA mutation by sequencing the regions of interest in the PINK1 gene in 237 unrelated Caucasian patients. Results – None of the 237 samples showed the G309D or W437OPA mutations. Conclusions – The G309D and W437OPA mutations in PINK1 gene probably do not represent common causes of familial or sporadic PD in a Caucasian population.</div>
</front>
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