Description:
GALACTOSEMIA
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Disorders of Carbohydrate Metabolism |
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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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Race
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White
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Family Member
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3
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Relation to Proband
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mother
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Confirmation
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Molecular characterization - other
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ISCN
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46,X,t(X;3)(Xpter>Xq26::3p12>3pter; 3qter>3p12::Xq26>Xqter)
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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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| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| UDP-glucose--hexose-1-phosphate uridylyltransferase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.7.12; 50% activity. |
| |
| 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)]. |
| Cytogenetics |
Chromosome 3: TRANSLOCATION Breakpoint 3p12 t(X;3)3p12 |
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Chromosome X: TRANSLOCATION Breakpoint Xq26 t(X;3)Xq26 |
| Remarks |
See GM01029A Lymph; 50% of normal transferase activity in RBCs; 2 affected children; 46,X,t(X;3)(Xpter>Xq26::3p12>3pter;3qter >3p12::Xq26>Xqter); balanced; clinically unaffected mother of GM00440, 00441, 00442, and 01533B; GALT gene mutation is [Gly188Arg (Q188R)]/+ |
| Dimri GP, Lee X, Basile G, Acosta M, Scott G, Roskelley C, Medrano EE, Linskens M, Rubelj I, Pereira-Smith O, et al, A biomarker that identifies senescent human cells in culture and in aging skin in vivo. Proc Natl Acad Sci U S A92:9363-7 1995 |
| PubMed ID: 7568133 |
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| Leach RJ, Chinn R, Reus BE, Hayes S, Schantz L, Dubois B, Overhauser J, Ballabio A, Drabkin H, Lewis TB, et al, Regional localization of 188 sequence tagged sites on a somatic cell hybrid mapping panel for human chromosome 3. Genomics24:549-56 1994 |
| PubMed ID: 7713507 |
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| Kaffe S, Beratis NG, Hirschhorn K, Greene AE, Coriell LL, Galactosemia. Repository identification Nos. GM-438 to GM-442. Cytogenet Cell Genet17:62-4 1976 |
| PubMed ID: 181209 |
| Passage Frozen |
6 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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