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Identification of 167 Polymorphisms in 88 Genes from Candidate Neurodegeneration Pathways
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology. (Human gene mapping)
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1999 (English)In: Gene, ISSN 0378-1119, E-ISSN 1879-0038, Vol. 238, no 2, 315-324 p.Article in journal (Refereed) Published
Abstract [en]

Catalogs of intra-gene polymorphisms are needed to facilitate wide-ranging candidate gene-based association studies in common complex diseases. With this in mind, we have scanned multiple alignments of expressed sequence tags and of genomic DNA sequences (PCR products from four to eight unrelated individuals) to find polymorphisms in 195 genes putatively involved in neurodegenerative illness (including components of oxidative stress, excitotoxicity, inflammation, apoptosis and aging). This led to the discovery of 167 polymorphisms in 88 genes. These comprised 163 single nucleotide polymorphisms, one insertion/deletion, and three other variations involving more than one base pair. The polymorphisms were distributed in the exons (87), introns (70), and gene flanking regions (10). Of the exonic polymorphisms, 17 would give rise to non-synonymous amino acid substitutions. These findings now provide a valuable resource for association studies in neurodegenerative disorders such as Alzheimer's disease and Parkinson's disease.

Place, publisher, year, edition, pages
1999. Vol. 238, no 2, 315-324 p.
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Medical Genetics
URN: urn:nbn:se:uu:diva-51356DOI: 10.1016/S0378-1119(99)00330-3OAI: oai:DiVA.org:uu-51356DiVA: diva2:79265
Available from: 2008-10-17 Created: 2008-10-17 Last updated: 2015-01-20Bibliographically approved

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Wyöni, Per-Ivan
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