Details

Autor(en) / Beteiligte

• Flanagan, Jonathon M
• Tighe, Orna
• O’ Neill, Charles
• Naughten, Eileen
• Mayne, Philip D
• Croke, David T

Titel

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

Ist Teil von

• Molecular genetics and metabolism, 2004-02, Vol.81 (2), p.133-136

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2004

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.