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Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridization
Amyotrophic Lateral Sclerosis, 06/01/09
Shoichet SA et al. – Non-polymorphic sub-microscopic duplications and deletions observable by array CGH are frequent in pts with sporadic amyotrophic lateral sclerosis (ALS). Analysis of such aberrations aids understanding of the etiology of this complex disease, given that affected genes can be considered candidates for influencing disease susceptibility.
Methods- Screening of 72 sporadic ALS pts for presence of DNA copy number variations to identify novel candidate disease genes
- Use of sub-megabase resolution BAC array comparative genomic hybridization to detect genomic imbalances
- Oligo array CGH to verify aberrations with potential relevance for disease etiology
- In 72 sporadic ALS pts, 6 duplications and 5 deletions scored above threshold
- Of these 11 variations, 9 were <1Mb; 5 exclusively in ALS pts
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