Identification of sequence variation in the galactose-1-phosphate uridyl transferase gene by dHPLC.
Mol Genet Metab
; 81(2): 133-6, 2004 Feb.
Article
em En
| MEDLINE
| ID: mdl-14741195
ABSTRACT
Transferase-deficient galactosaemia is an inherited disorder of carbohydrate metabolism, caused by mutation at the galactose-1-phosphate uridyl transferase (GALT) locus. A denaturing high performance liquid chromatography (dHPLC) method was developed for variant scanning of the GALT gene. The method unequivocally identified the Duarte D1, D2, Q188R, and K285N GALT alleles and associated polymorphisms. Length polymorphism in an intronic Alu repeat was characterised and a novel Single Nucleotide Polymorphism (IVS10nt-322g-->t) associated with the D1 allele was identified.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Variação Genética
/
Polimorfismo de Nucleotídeo Único
/
UDPglucose-Hexose-1-Fosfato Uridiltransferase
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2004
Tipo de documento:
Article