| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase. and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
| |
| 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 |
| |
| Gene |
GALT |
| Chromosomal Location |
9p13 |
| Allelic Variant 1 |
606999.0003; GALACTOSEMIA |
| Identified Mutation |
VAL44MET; Reichardt and Woo [Proc Natl Acad Sci U S A 88: 2633 (1991)] identified a substitution of valine-44 by methionine in a patient with galactosemia.
|
| |
| Gene |
GALT |
| Chromosomal Location |
9p13 |
| Allelic Variant 2 |
606999.0001; GALACTOSEMIA |
| Identified Mutation |
MET142LYS; 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. |