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

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 metho...

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Bibliographic Details
Published in:Molecular genetics and metabolism 2004-02, Vol.81 (2), p.133-136
Main Authors: Flanagan, Jonathon M, Tighe, Orna, O’ Neill, Charles, Naughten, Eileen, Mayne, Philip D, Croke, David T
Format: Article
Language:English
Subjects:
Alu Elements
Chromatography, High Pressure Liquid
Denaturing high performance liquid chromatography
Galactosaemia
Galactose-1-phosphate uridyl transferase
GALT gene
Genetic Variation
Humans
Polymorphism
Polymorphism, Genetic
Polymorphism, Single Nucleotide
Single nucleotide polymorphism
UDPglucose-Hexose-1-Phosphate Uridylyltransferase - blood
UDPglucose-Hexose-1-Phosphate Uridylyltransferase - genetics
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Summary: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.
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2003.10.008