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The IVS1 +319 t>a of SOD1 gene is not an ALS causing mutation.
- Source :
- Amyotrophic Lateral Sclerosis & Other Motor Neuron Disorders; Mar2005, Vol. 6 Issue 1, p45-49, 5p
- Publication Year :
- 2005
-
Abstract
- Amyotrophic lateral sclerosis (ALS) is caused by mutations in the gene for Cu/Zn superoxide dismutase (SOD1) in 10% of familial and sporadic cases. During the SOD1 analysis of 9 FALS and 121 SALS, in only one sporadic case we found the exonic mutation N19S; in 15 SALS patients we found a 319t>a variation in IVS1 sequence, at 108 bp upstream from exon 2. This variation has an unusually high frequency of 11% and is always in linkage disequilibrium with a described polymorphism in IVS3, +34a>c. The 319t>a variation is classified in two different public databases, HGMD and The ALS Online Database, as a splicing mutation and not as a polymorphism. The unusually high frequency of this mutation in our patients prompted us to determinate its frequency in 130 age- and gender- matched healthy controls and in 54 patients with Alzheimer's disease. We found again linkage disequilibrium with the polymorphism in intron 3, and the frequency of 11% and 7.8%, respectively. These results strongly support the idea that the IVS1 +319 t>a alone is not an ALS causing mutation, and that special care must be taken in the interpretation of data from mutations databases for correct genetic counselling. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 14660822
- Volume :
- 6
- Issue :
- 1
- Database :
- Complementary Index
- Journal :
- Amyotrophic Lateral Sclerosis & Other Motor Neuron Disorders
- Publication Type :
- Academic Journal
- Accession number :
- 16969426
- Full Text :
- https://doi.org/10.1080/14660820410021276a