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Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification
dc.creator | Djarmati, Ana | |
dc.creator | Gužvić, Miodrag | |
dc.creator | Gruenewald, Anne | |
dc.creator | Lang, Anthony E. | |
dc.creator | Pramstaller, Peter P. | |
dc.creator | Simon, David K. | |
dc.creator | Kaindl, Angela M. | |
dc.creator | Vieregge, Peter | |
dc.creator | Nygren, Anders O. H. | |
dc.creator | Beetz, Christian | |
dc.creator | Hedrich, Katja | |
dc.creator | Klein, Christine | |
dc.date.accessioned | 2018-03-01T20:12:47Z | |
dc.date.available | 2018-03-01T20:12:47Z | |
dc.date.issued | 2007 | |
dc.identifier.issn | 0885-3185 | |
dc.identifier.uri | https://vinar.vin.bg.ac.rs/handle/123456789/3296 | |
dc.description.abstract | Because of the occurrence of different types of mutations, comprehensive genetic testing for Parkinsons disease (PD), dopa-responsive dystonia (DRD), and myoclonus-dystonia (M-D) should include screening for small sequence changes and for large exonic rearrangements in disease-associated genes. In diagnostic and research settings, the latter is frequently omitted or performed by laborious and expensive quantitative real-time PCR (qPCR). Our study aimed to evaluate the utility of a novel method, multiplex ligation-dependent probe amplification (MLPA), in molecular diagnostics of movement disorders. We have analyzed, by MLPA, genomic DNA from 21 patients affected with PD, DRD, or M-D, in which the presence of exon rearrangement(s) (n = 20) or of a specific point mutation (detectable by MLPA, n = 1) had been established previously by qPCR or sequencing. In parallel, we have studied, in a blinded fashion, DNA from 49 patients with an unknown mutational status. Exon rearrangements were evident in 20 samples with previously established mutations; in the 21st sample the known specific point mutation was detected. We conclude that MLPA represents a reliable method for large-scale and cost-effective gene dosage screening of various movement disorders genes. This finding reaches far beyond a simple technical advancement and has two major implications: (1) By improving the availability of comprehensive genetic testing, it supports clinicians in the establishment of a genetically defined diagnosis; (2) By enabling gene dosage testing of several genes simultaneously, it significantly facilitates the mutational analysis of large patient and control populations and thereby constitutes the prerequisite for meaningful phenotype-genotype correlations. (C) 2007 Movement Disorder Society. | en |
dc.rights | restrictedAccess | en |
dc.source | Movement Disorders | en |
dc.subject | multiplex ligation-dependent probe amplification | en |
dc.subject | Parkinsons disease | en |
dc.subject | dopa-responsive dystonia | en |
dc.subject | myoclonus-dystonia | en |
dc.subject | exon rearrangements | en |
dc.title | Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification | en |
dc.type | article | en |
dcterms.abstract | Груенеwалд, Aнне; Симон, Давид К.; Каиндл, Aнгела М.; Виерегге, Петер; Нyгрен, Aндерс О. Х.; Хедрицх, Катја; Клеин, Цхристине; Прамсталлер, Петер П.; Дјармати, Aна; Гужвић Миодраг; Ланг, Aнтхонy Е.; Беетз, Цхристиан; | |
dc.citation.volume | 22 | |
dc.citation.issue | 12 | |
dc.citation.spage | 1708 | |
dc.citation.epage | 1714 | |
dc.identifier.wos | 000249992700003 | |
dc.identifier.doi | 10.1002/mds.21370 | |
dc.citation.rank | M21 | |
dc.identifier.pmid | 17674414 | |
dc.identifier.scopus | 2-s2.0-35349022051 |
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