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dc.contributor.authorDarvish, H
dc.contributor.authorMovafagh, A
dc.contributor.authorOmrani, MD
dc.contributor.authorFirouzabadi, SG
dc.contributor.authorAzargashb, E
dc.contributor.authorJamshidi, J
dc.contributor.authorKhaligh, A
dc.contributor.authorHaghnejad, L
dc.contributor.authorNaeini, NS
dc.contributor.authorTalebi, A
dc.contributor.authorHeidari-Rostami, HR
dc.contributor.authorNoorollahi-Moghaddam, H
dc.contributor.authorKarkheiran, S
dc.contributor.authorShahidi, GA
dc.contributor.authorPaknejad, SMH
dc.contributor.authorAshrafian, H
dc.contributor.authorAbdi, S
dc.contributor.authorKayyal, M
dc.contributor.authorAkbari, M
dc.contributor.authorPedram, N
dc.contributor.authorEmamalizadeh, B
dc.date.accessioned2018-08-26T07:57:26Z
dc.date.available2018-08-26T07:57:26Z
dc.date.issued2013
dc.identifier.urihttp://dspace.tbzmed.ac.ir:8080/xmlui/handle/123456789/49071
dc.description.abstractParkinson's disease (PD) is the second most common neurodegenerative disorder, after Alzheimer's disease. Genomic rearrangements are common mutations reported in PD patients. In this study, we investigated the prevalence of genomic rearrangements in a total of 232 Iranian PD patients, out of which 102 were sporadic early-onset (age-at-onset <= 45 years) and 51 had a family history. We used multiplex ligation-dependent probe amplification (MLPA) method to detect exon dosage changes. Two new improved probe kits, SALSA P051 and P052, were used and altogether alpha-synuclein, parkin, UCHL1, PINK1, DJ-1, LRRK2, GCH1, ATP13A2, CAV1, CAV2, LPA and TNFRSF9 genes were analyzed. Exon or whole-gene rearrangements were identified in 14(13.7%) sporadic early-onset PD patients in parkin, alpha-synuclein and PINK1. Of familial PD patients 46 cases from 18 families (35.3%) showed exon or whole-gene rearrangements in parkin, alpha-synuclein, PINK1, DJ-1, and ATP13A2 genes. All changes were verified by quantitative PCR (qPCR). Novel mutations and unusual clinical features are reported in this study. Mutations in parkin were the predominant genetic cause in both early-onset and familial PD groups. Also the mutations observed in family PD group are more in number and diversity than the sporadic early-onset PD group. (C) 2013 Elsevier Ireland Ltd. All rights reserved.
dc.language.isoEnglish
dc.relation.ispartofNEUROSCIENCE LETTERS
dc.subjectParkinson's disease
dc.subjectMLPA
dc.subjectExon dosage
dc.subjectCopy number changes
dc.titleDetection of copy number changes in genes associated with Parkinson's disease in Iranian patients
dc.typeArticle
dc.citation.volume551
dc.citation.spage75
dc.citation.epage78
dc.citation.indexWeb of science
dc.identifier.DOIhttps://doi.org/10.1016/j.neulet.2013.07.013


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