A PCR-based method for detecting known mutations in the human UDP galactose-4′-epimerase gene associated with epimerase-deficiency galactosemia

• Published in: Clinical genetics Vol. 60; no. 5; pp. 350 - 355
• Main Authors: Henderson, JM, Huguenin, SM, Cowan, TM, Fridovich-Keil, JL
• Format: Journal Article
• Language: English
• Published: Copenhagen Munksgaard International Publishers 01.11.2001; Blackwell
• Subjects: Base Sequence; Biological and medical sciences; Carbohydrates (enzymatic deficiencies). Glycogenosis; DNA Primers - genetics; epimerase deficiency; Errors of metabolism; galactosemia; Galactosemias - genetics; human; Humans; Medical sciences; Metabolic diseases; Molecular Sequence Data; mutation; Mutation - genetics; PCR; Polymerase Chain Reaction - methods; UDPglucose 4-Epimerase - genetics; Human; Gel electrophoresis; Enzyme; Deficiency; Sample; Metabolic diseases; Method; Information; Enzymopathy; Galactosemia; Genetic disease; Polymerase chain reaction; Symptomatology; Association; Complementary DNA; Gene; EC 5.1.3.2; Point mutation; Carbohydrate; Diagnosis; Carrier; Molecular biology; Detection; Severe
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1034/j.1399-0004.2001.600505.x

Epimerase‐deficiency galactosemia results from impairment of the human enzyme UDP galactose‐4′‐epimerase (GALE). We report a rapid, internally controlled PCR‐based method for detection of nine naturally occurring point mutations in human GALE associated with epimerase deficiency. These mutations were derived from patients whose clinical presentations ranged from mild to severe; all but one of these mutations have been reported previously. The tests described here work well on both cDNA and genomic samples and require no specialized equipment beyond a thermal cycler and an agarose gel electrophoresis system. Finally, although these tests in no way replace the need for biochemical diagnosis in epimerase‐deficiency galactosemia, they do provide the possibility of additional molecular information to support a biochemical diagnosis and facilitate the possibility of more accurate carrier testing, should that option be desired.