6 research outputs found
Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations
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
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Surface termination of CePt5/Pt(111): the key to chemical inertness
The surface termination of CePt5/Pt(111) is determined experimentally by LEED-IV. In accordance with
recent theoretical predictions, a dense Pt terminated surface is being found. Whereas the CePt5 volume lattice
comprises Pt kagome layers, additional Pt atoms occupy the associated hole positions at the surface. This
finding provides a natural explanation for the remarkable inertness of the CePt5 intermetallic. Implications of the
structural relaxations determined by LEED-IV analysis are discussed with regard to observations by scanning
tunneling microscopy and electron spectroscopies