Identification of sequence variation in the galactose-1-phosphate uridyl transferase gene by dHPLC

Jonathon M Flanagan; Orna Tighe; Charles O' Neill; Eileen Naughten; Philip D Mayne; David T Croke

doi:10.1016/j.ymgme.2003.10.008

Identification of sequence variation in the galactose-1-phosphate uridyl transferase gene by dHPLC

Mol Genet Metab. 2004 Feb;81(2):133-6. doi: 10.1016/j.ymgme.2003.10.008.

Authors

Jonathon M Flanagan¹, Orna Tighe, Charles O' Neill, Eileen Naughten, Philip D Mayne, David T Croke

Affiliation

¹ Department of Pathology, The Children's University Hospital, Temple Street, Dublin 1, Ireland.

PMID: 14741195
DOI: 10.1016/j.ymgme.2003.10.008

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Alu Elements
Chromatography, High Pressure Liquid
Genetic Variation*
Humans
Polymorphism, Genetic
Polymorphism, Single Nucleotide*
UDPglucose-Hexose-1-Phosphate Uridylyltransferase / blood
UDPglucose-Hexose-1-Phosphate Uridylyltransferase / genetics*

Substances

UDPglucose-Hexose-1-Phosphate Uridylyltransferase