Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements.
Identifieur interne : 001E60 ( Ncbi/Curation ); précédent : 001E59; suivant : 001E61Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements.
Auteurs : Oronzo Scarciolla [Italie] ; Francesco Brancati ; Enza Maria Valente ; Alessandro Ferraris ; Maria Vittoria De Angelis ; Stefano Valbonesi ; Barbara Garavaglia ; Antonino Uncini ; Giandomenico Palka ; Liborio Stuppia ; Bruno DallapiccolaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Gene Rearrangement, Genes, Dominant, Genes, Recessive, Genetic Testing (methods), Humans, Intracellular Signaling Peptides and Proteins (genetics), Middle Aged, Nucleic Acid Amplification Techniques (methods), Oncogene Proteins (genetics), Parkinson Disease (genetics), Protein Kinases (genetics), Protein-Serine-Threonine Kinases (genetics), Ubiquitin-Protein Ligases (genetics), alpha-Synuclein (genetics).
- MESH :
- chemical , genetics : Intracellular Signaling Peptides and Proteins, Oncogene Proteins, Protein Kinases, Protein-Serine-Threonine Kinases, Ubiquitin-Protein Ligases, alpha-Synuclein.
- genetics : Parkinson Disease.
- methods : Genetic Testing, Nucleic Acid Amplification Techniques.
- Adolescent, Adult, Age of Onset, Gene Rearrangement, Genes, Dominant, Genes, Recessive, Humans, Middle Aged.
Abstract
Parkinson's disease (PD) is a common disorder caused by degeneration of dopaminergic neurons in the substantia nigra and other brain areas. Mutations in several genes have been associated with both autosomal dominant PD and recessive early onset Parkinsonism (EOP). Genomic rearrangements such as deletions or multiplications of one or more exons represent a common mutational mechanism for most of these genes and are not detectable with routine mutation screening techniques. MLPA (Multiplex Ligation-dependent Probe Amplification), is a cheap, simple, rapid, and sensitive tool to detect exon dosage alterations and specific point mutations in selected genes. We tested the recently developed PD-MLPA assay by using 13 positive control samples carrying known mutations in SNCA, LRRK2, Parkin, PINK1, and DJ-1 genes. We then applied this technique to screen 16 EOP patients who were then cross-tested by quantitative PCR (qPCR). All the mutations present in the positive control samples were clearly detected by MLPA. Moreover, three novel Parkin rearrangements were identified among EOP patients and confirmed by qPCR. Only two samples generated false positive duplications of LRRK2 exon 1 and UCH-L1 exon 9, respectively. These results show that PD-MLPA assay can simultaneously and effectively detect rearrangements in most PD genes (SNCA, Parkin, PINK1, and DJ-1) as well as the LRRK2 G2019S common mutation. Thus, the use of this novel platform can improve the analysis of such mutations, facilitating comprehensive genetic testing in PD and EOP.
DOI: 10.1002/mds.21532
PubMed: 17914726
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Valente</name></author><author><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name></author><author><name sortKey="De Angelis, Maria Vittoria" sort="De Angelis, Maria Vittoria" uniqKey="De Angelis M" first="Maria Vittoria" last="De Angelis">Maria Vittoria De Angelis</name></author><author><name sortKey="Valbonesi, Stefano" sort="Valbonesi, Stefano" uniqKey="Valbonesi S" first="Stefano" last="Valbonesi">Stefano Valbonesi</name></author><author><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name></author><author><name sortKey="Uncini, Antonino" sort="Uncini, Antonino" uniqKey="Uncini A" first="Antonino" last="Uncini">Antonino Uncini</name></author><author><name sortKey="Palka, Giandomenico" sort="Palka, Giandomenico" uniqKey="Palka G" first="Giandomenico" last="Palka">Giandomenico Palka</name></author><author><name sortKey="Stuppia, Liborio" sort="Stuppia, Liborio" uniqKey="Stuppia L" first="Liborio" last="Stuppia">Liborio Stuppia</name></author><author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21532</idno><idno type="RBID">pubmed:17914726</idno><idno type="pmid">17914726</idno><idno type="wicri:Area/PubMed/Corpus">002499</idno><idno type="wicri:Area/PubMed/Curation">002499</idno><idno type="wicri:Area/PubMed/Checkpoint">002703</idno><idno type="wicri:Area/Ncbi/Merge">001E60</idno><idno type="wicri:Area/Ncbi/Curation">001E60</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements.</title><author><name sortKey="Scarciolla, Oronzo" sort="Scarciolla, Oronzo" uniqKey="Scarciolla O" first="Oronzo" last="Scarciolla">Oronzo Scarciolla</name><affiliation wicri:level="1"><nlm:affiliation>Aging Research Center, CeSi, University G. d'Annunzio, Chieti, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Aging Research Center, CeSi, University G. d'Annunzio, Chieti</wicri:regionArea><wicri:noRegion>Chieti</wicri:noRegion></affiliation></author><author><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name></author><author><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name></author><author><name sortKey="De Angelis, Maria Vittoria" sort="De Angelis, Maria Vittoria" uniqKey="De Angelis M" first="Maria Vittoria" last="De Angelis">Maria Vittoria De Angelis</name></author><author><name sortKey="Valbonesi, Stefano" sort="Valbonesi, Stefano" uniqKey="Valbonesi S" first="Stefano" last="Valbonesi">Stefano Valbonesi</name></author><author><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name></author><author><name sortKey="Uncini, Antonino" sort="Uncini, Antonino" uniqKey="Uncini A" first="Antonino" last="Uncini">Antonino Uncini</name></author><author><name sortKey="Palka, Giandomenico" sort="Palka, Giandomenico" uniqKey="Palka G" first="Giandomenico" last="Palka">Giandomenico Palka</name></author><author><name sortKey="Stuppia, Liborio" sort="Stuppia, Liborio" uniqKey="Stuppia L" first="Liborio" last="Stuppia">Liborio Stuppia</name></author><author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</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="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Gene Rearrangement</term><term>Genes, Dominant</term><term>Genes, Recessive</term><term>Genetic Testing (methods)</term><term>Humans</term><term>Intracellular Signaling Peptides and Proteins (genetics)</term><term>Middle Aged</term><term>Nucleic Acid Amplification Techniques (methods)</term><term>Oncogene Proteins (genetics)</term><term>Parkinson Disease (genetics)</term><term>Protein Kinases (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Ubiquitin-Protein Ligases (genetics)</term><term>alpha-Synuclein (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Intracellular Signaling Peptides and Proteins</term><term>Oncogene Proteins</term><term>Protein Kinases</term><term>Protein-Serine-Threonine Kinases</term><term>Ubiquitin-Protein Ligases</term><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genetic Testing</term><term>Nucleic Acid Amplification Techniques</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Gene Rearrangement</term><term>Genes, Dominant</term><term>Genes, Recessive</term><term>Humans</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Parkinson's disease (PD) is a common disorder caused by degeneration of dopaminergic neurons in the substantia nigra and other brain areas. Mutations in several genes have been associated with both autosomal dominant PD and recessive early onset Parkinsonism (EOP). Genomic rearrangements such as deletions or multiplications of one or more exons represent a common mutational mechanism for most of these genes and are not detectable with routine mutation screening techniques. MLPA (Multiplex Ligation-dependent Probe Amplification), is a cheap, simple, rapid, and sensitive tool to detect exon dosage alterations and specific point mutations in selected genes. We tested the recently developed PD-MLPA assay by using 13 positive control samples carrying known mutations in SNCA, LRRK2, Parkin, PINK1, and DJ-1 genes. We then applied this technique to screen 16 EOP patients who were then cross-tested by quantitative PCR (qPCR). All the mutations present in the positive control samples were clearly detected by MLPA. Moreover, three novel Parkin rearrangements were identified among EOP patients and confirmed by qPCR. Only two samples generated false positive duplications of LRRK2 exon 1 and UCH-L1 exon 9, respectively. These results show that PD-MLPA assay can simultaneously and effectively detect rearrangements in most PD genes (SNCA, Parkin, PINK1, and DJ-1) as well as the LRRK2 G2019S common mutation. Thus, the use of this novel platform can improve the analysis of such mutations, facilitating comprehensive genetic testing in PD and EOP.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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