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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POLISH
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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 |
608034.0001; CANAVAN DISEASE |
| Identified Mutation |
GLU285ALA; In 29 of 34 alleles from a sample of 17 unrelated pedigrees of Ashkenazi Jewish descent, Kaul et al. [Nat Genet 5: 118 (1993)] found a missense glu285-to-ala mutation. Of the 17 probands, 12 were found to be homozygous for the mutation and 5 were compound heterozygotes, the mutation on the second Canavan allele remaining to be determined. Elpeleg et al. [Am J Hum Genet 55: 287 (1994)] found that the A-to-C transition at nucleotide 854 of the cDNA was present in homozygous state in all 18 patients with Canavan disease observed in Israel. All were Israeli Ashkenazi Jews. Among 879 healthy Israeli Ashkenazi Jews, 15 heterozygotes were found, representing a carrier rate of 1 in 59. |
| Remarks |
Obligate heterozygote; donor subject is heterozygous for an A>C transversion at nucleotide 854 of the ASPA gene [854A>C] resulting in a substitution of alanine for glutamic acid at codon 285 [Glu285Ala (E285A)].
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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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