GM11763
LCL from B-Lymphocyte
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 |
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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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LCL from B-Lymphocyte
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Molecular characterization after 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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| 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 |
606999.0002; GALACTOSEMIA |
| Identified Mutation |
ARG333TRP; In a classic galactosemic patient, Reichardt and Woo [Am J Hum Genet 47: A164 (1990); Proc Natl Acad Sci U S A 88: 2633 (1991)] found a methionine-to-lysine change at a position that is conserved in all eukaryotes sequenced to date but in none of the prokaryotes. The mutation reduced the specific activity of the mutated protein to about 4% of normal. |
| Remarks |
Despite well documented adequate dietary management since birth, suffers from severe neurologic complications; sim affec bro; mRNA & CRM pos; GALT gene mutations: A to G transition at nucleotide 591 (591A>G) [Gln188Arg (Q188R)] & C to T transition at nucleotide 1025 (1025C>T) [Arg333Trp (R333W)] |
| Reichardt JK, Packman S, Woo SL, Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase. Am J Hum Genet49:860-7 1991 |
| PubMed ID: 1897530 |
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| Lo W, Packman S, Nash S, Schmidt K, Ireland S, Diamond I, Ng W, Donnell G, Curious neurologic sequelae in galactosemia. Pediatrics73:309-12 1984 |
| PubMed ID: 6701054 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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