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

被引：5

作者：

Flanagan, JM

Tighe, O

O'Neill, C

Naughten, E

Mayne, PD

Croke, DT ^{[1
]}

机构：

[1] Royal Coll Surgeons Ireland, Dept Biochem, Dublin 2, Ireland

[2] Childrens Univ Hosp, Metab Unit, Dublin 1, Ireland

[3] Childrens Univ Hosp, Dept Pathol, Dublin 1, Ireland

来源：

MOLECULAR GENETICS AND METABOLISM | 2004年 / 81卷 / 02期

关键词：

galactosaemia; galactose-1-phosphate uridyl transferase; single nucleotide polymorphism; denaturing high performance liquid chromatography; polymorphism;

D O I：

10.1016/j.ymgme.2003.10.008

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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. (C) 2003 Published by Elsevier Inc.

引用

页码：133 / 136

页数：4

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