A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease. Neurogenetics.
| dc.Faculty | Endemic Diseases | en_US |
| dc.contributor.author | Mukhtar, Moawia M. | |
| dc.contributor.author | Kheir, Musa M. | |
| dc.contributor.author | Salih, Mustafa A. | |
| dc.contributor.author | etal | |
| dc.date | 2009 | |
| dc.date.accessioned | 2015-11-26T08:06:18Z | |
| dc.date.available | 2015-11-26T08:06:18Z | |
| dc.date.issued | 2015-11-26 | |
| dc.date.submitted | 2015 | |
| dc.description.abstract | PARK2 and PINK1 gene mutations are involved in recessive early onset Parkinson’s disease (EOPD). In order to determine the causative mutations in three affected sibs from a consanguineous Sudanese family with EOPD, multiplex ligation-dependent probe amplification was performed and revealed that the patients were homozygous for a deletion of PINK1 exons 4 to 8. Breakpoint analysis revealed a complex rearrangement combining a large deletion and the insertion of a sequence duplicated from the DDOST gene intron 2, located near the PINK1 gene. As breakpoint sequences displayed only three base pairs of homology, this rearrangement may result from Fork Stalling and Template Switching mechanism. This third large rearrangement of PINK1 enlarges the mutation spectrum and, together with recent published data in Tunisian patients with EOPD, points out that PINK1 gene analysis, including search for large rearrangement, should be considered in early onset recessive PD patients, particularly those from Arab origin. | en_US |
| dc.identifier.uri | http://khartoumspace.uofk.edu/123456789/17309 | |
| dc.publisher | university of khartoum | en_US |
| dc.subject | Early onset Parkinson’s disease Autosomal recessive PINK1 PARK6 Complex rearrangement Fork Stalling and Template Switching neurogenetics neurogenetics Look Inside Article Metrics Citations 5 Other actions Export citation Register for Journal Updates About This Journal Reprints and Permissions Add to Papers Share Share this content on Facebook Share this content on Twitter Share this content on LinkedIn | en_US |
| dc.title | A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease. Neurogenetics. | en_US |
| dc.type | Publication | en_US |