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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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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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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| Passage Frozen |
6 |
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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 |
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| Gene |
GALT |
| Chromosomal Location |
9p13 |
| Allelic Variant 1 |
606999.0005; DUARTE VARIANT |
| Identified Mutation |
ASN314ASP; This polymorphism was identified by Reichardt and Woo [Proc Natl Acad Sci U S A 88: 2633 (1991)], who pointed out that the galactosemia mutations tend to occur in regions of the gene that are highly conserved throughout evolution while the polymorphisms change variable residues. The mutation is an A-to-G transition at basepair 2744 of exon 10, which adds an AvaII cut site. |
| Remarks |
Duarte variant-galactosemia heterozygote; reduced transferase activity in fibroblasts and erythrocytes; GALT gene mutation is 2744A>G [Asn314Asp (N314D)]/+ |
| Tsumagari K, Qi L, Jackson K, Shao C, Lacey M, Sowden J, Tawil R, Vedanarayanan V, Ehrlich M, Epigenetics of a tandem DNA repeat: chromatin DNaseI sensitivity and opposite methylation changes in cancers Nucleic acids research36:2196-207 2008 |
| PubMed ID: 18281700 |
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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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| Donnell GN, Ng WG, Alfi OS, Greene AE, Coriell LL, Duarte variant-galactosemia heterozygote. Repository identification No. GM-1996. Cytogenet Cell Genet19:53-4 1977 |
| PubMed ID: 891264 |
| Passage Frozen |
6 |
| 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 |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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