Description:
AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
SUPEROXIDE DISMUTASE 1; SOD1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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6
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Relation to Proband
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paternal cousin
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
SOD1 |
| Chromosomal Location |
21q22.11 |
| Allelic Variant 1 |
147450.0009; AMYOTROPHIC LATERAL SCLEROSIS, FAMILIAL |
| Identified Mutation |
GLU100GLY; This mutation of the SOD1 gene was identified by Rosen et al. (1993) in a family with amyotrophic lateral sclerosis. Winterbourn et al. (1995) demonstrated decreased thermal stability of red cell superoxide dismutase carrying the glu100-to-gly mutation for a family with amyotrophic lateral sclerosis. Extracts containing the mutant had an average 68% of normal SOD activity. On heating at 65 degrees centigrade, these extracts lost activity at twice the rate of extracts containing only normal enzyme.
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| Remarks |
Clinically affected with upper and lower motor neuron involvement; mother is affected; mother of GM08885; donor subject has one allele which has an A>G transition in exon 4 of the SOD1 gene resulting in the substitution of glycine for glutamic acid at codon 100 [Glu100Gly (E100G)] |
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