Description:
CANAVAN DISEASE
ASPARTOACYLASE; ASPA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
GeT-RM Samples |
| 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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Ethnicity
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ASHKENAZI
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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 |
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| MUTATION VERIFICATION |
The gene mutation(s) in this sample have been verified by 6 laboratories. |
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| Gene |
ASPA |
| Chromosomal Location |
17pter-p13 |
| Allelic Variant 1 |
608034.0005; CANAVAN DISEASE |
| Identified Mutation |
TYR231TER; In Ashkenazi Jewish patients with Canavan disease, Kaul et al. [Genomics 21: 364-370 1994)] identified a 693C-A nonsense mutation in exon 5 of the ASPA gene (Y231X). Expression of the mutation in COS-1 cells showed a complete loss of ASPA enzyme activity. Among Ashkenazi Jewish patients with Canavan disease, Kaul et al. [Hum. Genet. 59: 95-102 (1996)] found that the G285A missense mutation (608034.0001) and the Y231X nonsense mutation accounted for 97% of 104 mutant chromosomes examined. |
| Remarks |
Ashkenazi; clinically normal carrier; donor subject is heterozygous for a C>A transversion at nucleotide 693 in exon 5 of the ASPA gene [693C>A] resulting in a substitution of a termination signal for tyrosine at codon 231 [Tyr231Ter (Y231X)].
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| Kalman L, Wilson JA, Buller A, Dixon J, Edelmann L, Geller L, Highsmith WE, Holtegaard L, Kornreich R, Rohlfs EM, Payeur TL, Sellers T, Toji L, Muralidharan K, Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent The Journal of molecular diagnostics : JMD11:530-6 2009 |
| PubMed ID: 19815695 |
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