| First Author | Leslie ND | Year | 1992 |
| Journal | Genomics | Volume | 14 |
| Issue | 2 | Pages | 474-80 |
| PubMed ID | 1427861 | Mgi Jnum | J:41832 |
| Mgi Id | MGI:894534 | Doi | 10.1016/s0888-7543(05)80244-7 |
| Citation | Leslie ND, et al. (1992) The human galactose-1-phosphate uridyltransferase gene. Genomics 14(2):474-80 |
| abstractText | Classical galactosemia is an inborn error of metabolism caused by a deficiency of galactose-1-phosphate uridyltransferase (GALT). Standard treatment with dietary galactose restriction will reverse the potentially lethal symptoms of the disease that are manifest in the newborn period. However, the long-term prognosis for these patients is variable. As a first step toward investigating the molecular basis for phenotypic variation in galactosemia, we have cloned and sequenced the entire gene for human galactose-1-phosphate uridyltransferase. This gene is organized into 11 exons spanning 4 kb. In exons 6, 9, and a portion of 10, there is a high degree of amino acid sequence conservation among Escherichia coli, yeast, mouse, and human. We have identified a number of nucleotide changes in the GALT genes of galactosemic patients that alter conserved amino acids. The most common of these is an A to G transition at nucleotide position 1470, converting a glutamine to an arginine at amino acid codon position 188 (Q188R).(ABSTRACT TRUNCATED AT 250 WORDS) |
