Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations
| Autor: | Vincenzo Bonifati, Sylvia A. Eshuis, Klaus L. Leenders, Cristina Tassorelli, Jan Pieter M. Stroy, Wilson F. Abdo, Klaartje Van Engelen, Leonardo Lopiano, Saskia A. J. Lesnik-Oberstein, Peter Elfferich, Agnita J.W. Boon, Jan C.M. Zijlmans, J. Anneke Maat-Kievit, Bart P.C. van de Warrenburg, Dennis Dooijes, Rick van Minkelen, M.C.T. Verleun-Mooijman, Ad Hovestadt, John C. van Swieten, Corien C. Verschuuren-Bemelmans |
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| Přispěvatelé: | Clinical Genetics, Neurology, Human genetics, NCA - Neurodegeneration, Amsterdam Cardiovascular Sciences, Human Genetics |
| Rok vydání: | 2011 |
| Předmět: |
Male
Duplication Parkinson's disease DNA Mutational Analysis medicine.disease_cause Polymerase Chain Reaction Parkin DISEASE FAMILIES Chromosome Breakpoints Exon Gene Duplication Gene duplication Perception and Action [DCN 1] Genetics(clinical) ASSAY parkin Age of Onset Genetics (clinical) Genetics Breakpoint mapping Mutation ORIGIN REARRANGEMENTS Chromosome Mapping Parkinson Disease Exons Middle Aged EARLY-ONSET PARKINSONISM CANCER Pedigree Pathogenesis and modulation of inflammation [N4i 1] Original Article Female Functional Neurogenomics [DCN 2] Adult EUROPE Adolescent Common founder Ubiquitin-Protein Ligases Biology Deletion Young Adult Cellular and Molecular Neuroscience medicine Humans Multiplex ligation-dependent probe amplification Aged Haplotype Breakpoint AMPLIFICATION Molecular biology GENE nervous system diseases Haplotypes Parkinson’s disease Gene Deletion |
| Zdroj: | Neurogenetics, 12, 263-71 Neurogenetics, 12(4), 263-271. Springer-Verlag Neurogenetics, 12, 4, pp. 263-71 neurogenetics, 12(4), 263-271 Neurogenetics, 12(4), 263-271. SPRINGER Neurogenetics, 12(4), 263-271. Springer Verlag Neurogenetics Elfferich, P, Verleun-Mooijman, M C, Maat-Kievit, J A, Van De Warrenburg, B P C, Abdo, W F, Eshuis, S A, Leenders, K L, Hovestadt, A, Zijlmans, J C M, Stroy, J P M, Van Swieten, J C, Boon, A J W, Van Engelen, K, Verschuuren-Bemelmans, C C, Lesnik-Oberstein, S A J, Tassorelli, C, Lopiano, L, Bonifati, V, Dooijes, D & Van Minkelen, R 2011, ' Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations ', Neurogenetics, vol. 12, no. 4, pp. 263-271 . https://doi.org/10.1007/s10048-011-0302-9 |
| ISSN: | 1364-6745 |
| Popis: | Item does not contain fulltext Early-onset Parkinson's disease (EOPD) has been associated with recessive mutations in parkin (PARK2). About half of the mutations found in parkin are genomic rearrangements, i.e., large deletions or duplications. Although many different rearrangements have been found in parkin before, the exact breakpoints involving these rearrangements are rarely mapped. In the present study, the exact breakpoints of 13 different parkin deletions/duplications, detected in 13 patients out of a total screened sample of 116 EOPD patients using Multiple Ligation Probe Amplification (MLPA) analysis, were mapped using real time quantitative polymerase chain reaction (PCR), long-range PCR and sequence analysis. Deletion/duplication-specific PCR tests were developed as a rapid and low cost tool to confirm MLPA results and to test family members or patients with similar parkin deletions/duplications. Besides several different deletions, an exon 3 deletion, an exon 4 deletion and an exon 7 duplication were found in multiple families. Haplotype analysis in four families showed that a common haplotype of 1.2 Mb could be distinguished for the exon 7 duplication and a common haplotype of 6.3 Mb for the deletion of exon 4. These findings suggest common founder effects for distinct large rearrangements in parkin. |
| Databáze: | OpenAIRE |
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