MovDisordV3, PascalFrancis, Corpus, bibRecord, 001444

Multiplex Ligation-Dependent Probe Amplification Assay for Simultaneous Detection of Parkinson's Disease Gene Rearrangements

Identifieur interne : 001444 ( PascalFrancis/Corpus ); précédent : 001443; suivant : 001445

Multiplex Ligation-Dependent Probe Amplification Assay for Simultaneous Detection of Parkinson's Disease Gene Rearrangements

Auteurs : Oronzo Scarciolla ; Francesco Brancati ; Enza Maria Valente ; Alessandro Ferraris ; Maria Vittoria De Angelis ; Stefano Valbonesi ; Barbara Garavaglia ; Antonino Uncini ; Giandomenico Palka ; Liborio Stuppia ; Bruno Dallapiccola

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:08-0071417

Descripteurs français

Pascal (Inist)
- Pathologie du système nerveux, Maladie de Parkinson, Parkinsonisme, Amplification, Mesure simultanée, Réarrangement génique.

English descriptors

KwdEn :
- Amplification, Gene rearrangement, Nervous system diseases, Parkinson disease, Parkinsonism, Simultaneous measurement.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A14	`01`			`@1 Aging Research Center, CeSi, University G. d'Annunzio @2 Chieti @3 ITA @Z 1 aut. @Z 2 aut. @Z 6 aut. @Z 9 aut. @Z 10 aut.`
A14	`02`			`@1 Department of Biomedical Sciences, University G. d'Annunzio @2 Chieti @3 ITA @Z 1 aut. @Z 2 aut. @Z 6 aut. @Z 9 aut. @Z 10 aut.`
A14	`03`			`@1 Department of Clinical Sciences and Bioimaging, University G. d'Annunzio @2 Chieti-Pescara @3 ITA @Z 1 aut.`
A14	`04`			`@1 IRCCS CSS-Mendel Institute @2 Rome @3 ITA @Z 2 aut. @Z 3 aut. @Z 4 aut. @Z 11 aut.`
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A14	`08`			`@1 Department of Human Motor Sciences, University G. d'Annunzio @2 Chieti @3 ITA @Z 5 aut. @Z 8 aut.`
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C01	`01`		`ENG`	@0 :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.
C02	`01`	`X`		`@0 002B17`
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C03	`01`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 01`
C03	`01`	`X`	`ENG`	`@0 Nervous system diseases @5 01`
C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Maladie de Parkinson @2 NM @5 02`
C03	`02`	`X`	`ENG`	`@0 Parkinson disease @2 NM @5 02`
C03	`02`	`X`	`SPA`	`@0 Parkinson enfermedad @2 NM @5 02`
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C03	`03`	`X`	`ENG`	`@0 Parkinsonism @2 NM @5 03`
C03	`03`	`X`	`SPA`	`@0 Parkinson síndrome @2 NM @5 03`
C03	`04`	`X`	`FRE`	`@0 Amplification @5 09`
C03	`04`	`X`	`ENG`	`@0 Amplification @5 09`
C03	`04`	`X`	`SPA`	`@0 Amplificación @5 09`
C03	`05`	`X`	`FRE`	`@0 Mesure simultanée @5 10`
C03	`05`	`X`	`ENG`	`@0 Simultaneous measurement @5 10`
C03	`05`	`X`	`SPA`	`@0 Medición simultánea @5 10`
C03	`06`	`X`	`FRE`	`@0 Réarrangement génique @5 11`
C03	`06`	`X`	`ENG`	`@0 Gene rearrangement @5 11`
C03	`06`	`X`	`SPA`	`@0 Redisposición génica @5 11`
C07	`01`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 37`
C07	`01`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`01`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 38`
C07	`02`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 38`
C07	`02`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 38`
C07	`03`	`X`	`FRE`	`@0 Maladie dégénérative @5 39`
C07	`03`	`X`	`ENG`	`@0 Degenerative disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 39`
C07	`04`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 40`
C07	`04`	`X`	`ENG`	`@0 Central nervous system disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 40`
N21				`@1 035`
N44	`01`			`@1 OTO`
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Format Inist (serveur)

NO :	PASCAL 08-0071417 INIST
ET :	Multiplex Ligation-Dependent Probe Amplification Assay for Simultaneous Detection of Parkinson's Disease Gene Rearrangements
AU :	SCARCIOLLA (Oronzo); BRANCATI (Francesco); VALENTE (Enza Maria); FERRARIS (Alessandro); VITTORIA DE ANGELIS (Maria); VALBONESI (Stefano); GARAVAGLIA (Barbara); UNCINI (Antonino); PALKA (Giandomenico); STUPPIA (Liborio); DALLAPICCOLA (Bruno)
AF :	Aging Research Center, CeSi, University G. d'Annunzio/Chieti/Italie (1 aut., 2 aut., 6 aut., 9 aut., 10 aut.); Department of Biomedical Sciences, University G. d'Annunzio/Chieti/Italie (1 aut., 2 aut., 6 aut., 9 aut., 10 aut.); Department of Clinical Sciences and Bioimaging, University G. d'Annunzio/Chieti-Pescara/Italie (1 aut.); IRCCS CSS-Mendel Institute/Rome/Italie (2 aut., 3 aut., 4 aut., 11 aut.); Operative Unit of Pediatric Genetics and Immunology, Department of Medical and Surgical Pediatric Sciences, University of Messina/Messina/Italie (3 aut., 11 aut.); Department of Experimental Medicine and Pathology, University La Sapienza/Rome/Italie (4 aut.); Neurodegenerative Diseases Unit, Aging Research Center, CeSi, University G. d'Annunzio/Chieti/Italie (5 aut., 8 aut.); Department of Human Motor Sciences, University G. d'Annunzio/Chieti/Italie (5 aut., 8 aut.); Molecular Neurogenetics Unit, Foundation IRCCS Neurological Institute "C. Besta"/Milan/Italie (7 aut.); Human Genetics Division, Hospital of Pescara/Pescara/Italie (9 aut.); IGM CNR/Bologna/Italie (10 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 15; Pp. 2274-2278; Bibl. 13 ref.
LA :	Anglais
EA :	: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.
CC :	002B17; 002B17G; 002B17A03
FD :	Pathologie du système nerveux; Maladie de Parkinson; Parkinsonisme; Amplification; Mesure simultanée; Réarrangement génique
FG :	Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central
ED :	Nervous system diseases; Parkinson disease; Parkinsonism; Amplification; Simultaneous measurement; Gene rearrangement
EG :	Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease
SD :	Sistema nervioso patología; Parkinson enfermedad; Parkinson síndrome; Amplificación; Medición simultánea; Redisposición génica
LO :	INIST-20953.354000162671070210
ID :	08-0071417

Links to Exploration step

Pascal:08-0071417

Le document en format XML

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<author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name>
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<sZ>1 aut.</sZ>
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<s3>ITA</s3>
<sZ>1 aut.</sZ>
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<affiliation><inist:fA14 i1="02"><s1>Department of Biomedical Sciences, University G. d'Annunzio</s1>
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<s3>ITA</s3>
<sZ>1 aut.</sZ>
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<s3>ITA</s3>
<sZ>2 aut.</sZ>
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<s3>ITA</s3>
<sZ>2 aut.</sZ>
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<author><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name>
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<s3>ITA</s3>
<sZ>2 aut.</sZ>
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<sZ>4 aut.</sZ>
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<affiliation><inist:fA14 i1="06"><s1>Department of Experimental Medicine and Pathology, University La Sapienza</s1>
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<s3>ITA</s3>
<sZ>4 aut.</sZ>
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<s3>ITA</s3>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
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<affiliation><inist:fA14 i1="08"><s1>Department of Human Motor Sciences, University G. d'Annunzio</s1>
<s2>Chieti</s2>
<s3>ITA</s3>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
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<affiliation><inist:fA14 i1="01"><s1>Aging Research Center, CeSi, University G. d'Annunzio</s1>
<s2>Chieti</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
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<affiliation><inist:fA14 i1="02"><s1>Department of Biomedical Sciences, University G. d'Annunzio</s1>
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<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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<s3>ITA</s3>
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<s3>ITA</s3>
<sZ>5 aut.</sZ>
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<affiliation><inist:fA14 i1="08"><s1>Department of Human Motor Sciences, University G. d'Annunzio</s1>
<s2>Chieti</s2>
<s3>ITA</s3>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
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<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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<affiliation><inist:fA14 i1="01"><s1>Aging Research Center, CeSi, University G. d'Annunzio</s1>
<s2>Chieti</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
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<s2>Chieti</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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<author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name>
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<s3>ITA</s3>
<sZ>2 aut.</sZ>
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<affiliation><inist:fA14 i1="05"><s1>Operative Unit of Pediatric Genetics and Immunology, Department of Medical and Surgical Pediatric Sciences, University of Messina</s1>
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<s3>ITA</s3>
<sZ>3 aut.</sZ>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2007">2007</date>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<idno type="ISSN">0885-3185</idno>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Amplification</term>
<term>Gene rearrangement</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
<term>Parkinsonism</term>
<term>Simultaneous measurement</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Pathologie du   système nerveux</term>
<term>Maladie de Parkinson</term>
<term>Parkinsonisme</term>
<term>Amplification</term>
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<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>
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<s3>ITA</s3>
<sZ>4 aut.</sZ>
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<sZ>5 aut.</sZ>
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</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>40</s5>
</fC07>
<fN21><s1>035</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
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<fN82><s1>OTO</s1>
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<server><NO>PASCAL 08-0071417 INIST</NO>
<ET>Multiplex Ligation-Dependent Probe Amplification Assay for Simultaneous Detection of Parkinson's Disease Gene Rearrangements</ET>
<AU>SCARCIOLLA (Oronzo); BRANCATI (Francesco); VALENTE (Enza Maria); FERRARIS (Alessandro); VITTORIA DE ANGELIS (Maria); VALBONESI (Stefano); GARAVAGLIA (Barbara); UNCINI (Antonino); PALKA (Giandomenico); STUPPIA (Liborio); DALLAPICCOLA (Bruno)</AU>
<AF>Aging Research Center, CeSi, University G. d'Annunzio/Chieti/Italie (1 aut., 2 aut., 6 aut., 9 aut., 10 aut.); Department of Biomedical Sciences, University G. d'Annunzio/Chieti/Italie (1 aut., 2 aut., 6 aut., 9 aut., 10 aut.); Department of Clinical Sciences and Bioimaging, University G. d'Annunzio/Chieti-Pescara/Italie (1 aut.); IRCCS CSS-Mendel Institute/Rome/Italie (2 aut., 3 aut., 4 aut., 11 aut.); Operative Unit of Pediatric Genetics and Immunology, Department of Medical and Surgical Pediatric Sciences, University of Messina/Messina/Italie (3 aut., 11 aut.); Department of Experimental Medicine and Pathology, University La Sapienza/Rome/Italie (4 aut.); Neurodegenerative Diseases Unit, Aging Research Center, CeSi, University G. d'Annunzio/Chieti/Italie (5 aut., 8 aut.); Department of Human Motor Sciences, University G. d'Annunzio/Chieti/Italie (5 aut., 8 aut.); Molecular Neurogenetics Unit, Foundation IRCCS Neurological Institute "C. Besta"/Milan/Italie (7 aut.); Human Genetics Division, Hospital of Pescara/Pescara/Italie (9 aut.); IGM CNR/Bologna/Italie (10 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 15; Pp. 2274-2278; Bibl. 13 ref.</SO>
<LA>Anglais</LA>
<EA>: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.</EA>
<CC>002B17; 002B17G; 002B17A03</CC>
<FD>Pathologie du   système nerveux; Maladie de Parkinson; Parkinsonisme; Amplification; Mesure simultanée; Réarrangement génique</FD>
<FG>Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du   système nerveux central</FG>
<ED>Nervous system diseases; Parkinson disease; Parkinsonism; Amplification; Simultaneous measurement; Gene rearrangement</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease</EG>
<SD>Sistema nervioso patología; Parkinson enfermedad; Parkinson síndrome; Amplificación; Medición simultánea; Redisposición génica</SD>
<LO>INIST-20953.354000162671070210</LO>
<ID>08-0071417</ID>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Multiplex Ligation-Dependent Probe Amplification Assay for Simultaneous Detection of Parkinson's Disease Gene Rearrangements

Multiplex Ligation-Dependent Probe Amplification Assay for Simultaneous Detection of Parkinson's Disease Gene Rearrangements

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