The human galactose-1-phosphate uridyltransferase gene.
Genomics
; 14(2): 474-80, 1992 Oct.
Article
em En
| MEDLINE
| ID: mdl-1427861
ABSTRACT
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)
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
UTP-Hexose-1-Fosfato Uridililtransferase
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Genomics
Assunto da revista:
GENETICA
Ano de publicação:
1992
Tipo de documento:
Article