NA00422
DNA from Fibroblast
Description:
GALACTOSEMIA
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Relation to Proband
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proband
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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 Isoenzyme Electrophoresis |
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| Gene |
GALT |
| Chromosomal Location |
9p13 |
| Allelic Variant 1 |
606999.0006; GALACTOSEMIA |
| Identified Mutation |
GLN188ARG; Reichardt et al. [Am J Hum Genet 49: 860 (1991)] demonstrated a transition at nucleotide 591 that substituted arginine for glutamine-188. The mutated glutamine is not only highly conserved in evolution, but is also 2 amino acid residues downstream from the active site histidine-proline-histidine triad. Lymphoblasts from subjects homozygous for the GLN188ARG mutation show essentially no detectable GALT activity [Fridovich-Keil and Jinks-Robertson. Proc Nat Acad Sci USA 90: 398 (1993)]. |
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| Gene |
GALT |
| Chromosomal Location |
9p13 |
| Allelic Variant 2 |
Q344K; GALACTOSEMIA |
| Identified Mutation |
GLN344LYS |
| Remarks |
Passage 3 at CCR; clinically affected; donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 563 in exon 6 of the GALT gene (c.563A>G) resulting in the substitution of arginine for glutamine at codon 188 [Gln188Arg (Q188R)]; and the second allele has a C>A transition at nucleotide 1030 in exon 10 (c.1030C>A) resulting in the substitution of lysine for glutamine at codon 344 [Gln344Lys (Q344K)] |
| Brophy ML, Stansfield JC, Ahn Y, Cheng SH, Murphy JE, Bell RD, AAV-mediated expression of galactose-1-phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts Journal of inherited metabolic disease: 2021 |
| PubMed ID: 34918784 |
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| Reichardt JK, Molecular analysis of 11 galactosemia patients. Nucleic Acids Res19:7049-52 1991 |
| PubMed ID: 1766867 |
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