| Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays. | |
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MedLine Citation:
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PMID: 18513678 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Robust SNP genotyping technologies and data analysis programs have encouraged researchers in recent years to use SNPs for linkage studies. Platforms used to date have been 10 K chip arrays, but the possible value of interrogating SNPs at higher densities has been considered. Here, we present a genome-wide linkage analysis by means of a 500 K SNP platform. The analysis was done on a large pedigree affected with Parkinsonian-pyramidal syndrome (PPS), and the results showed linkage to chromosome 22. Sequencing of candidate genes revealed a disease-associated homozygous variation (R378G) in FBXO7. FBXO7 codes for a member of the F-box family of proteins, all of which may have a role in the ubiquitin-proteosome protein-degradation pathway. This pathway has been implicated in various neurodegenerative diseases, and identification of FBXO7 as the causative gene of PPS is expected to shed new light on its role. The performance of the array was assessed and systematic analysis of effects of SNP density reduction was performed with the real experimental data. Our results suggest that linkage in our pedigree may have been missed had we used chips containing less than 100,000 SNPs across the genome. |
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Authors:
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Seyedmehdi Shojaee; Farzad Sina; Setareh Sadat Banihosseini; Mohammad Hossein Kazemi; Reza Kalhor; Gholam-Ali Shahidi; Hossein Fakhrai-Rad; Mostafa Ronaghi; Elahe Elahi |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of human genetics Volume: 82 ISSN: 1537-6605 ISO Abbreviation: Am. J. Hum. Genet. Publication Date: 2008 Jun |
Date Detail:
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Created Date: 2008-06-03 Completed Date: 2008-06-27 Revised Date: 2010-09-22 |
Medline Journal Info:
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Nlm Unique ID: 0370475 Medline TA: Am J Hum Genet Country: United States |
Other Details:
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Languages: eng Pagination: 1375-84 Citation Subset: IM |
Affiliation:
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Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Substitution Chromosomes, Human, Pair 22 / genetics F-Box Proteins / genetics Female Genome, Human Humans Linkage (Genetics) Lod Score Male Oligonucleotide Array Sequence Analysis Parkinson Disease / genetics* Pedigree Phenotype Point Mutation Polymorphism, Single Nucleotide* Pyramidal Tracts* Synapsins / genetics Syndrome |
| Chemical | |
Reg. No./Substance:
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0/F-Box Proteins; 0/FBXO7 protein, human; 0/SYN3 protein, human; 0/Synapsins |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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