The polymerase chain reaction is generally used for mutational analysis of the galactose-1-phosphate uridyl transferase (GALT) gene in the diagnosis of galactosemia. This method is problematic when used in families of Ashkenazi Jewish descent.
Dr. John T. Macdonald Foundation Center for Medical Genetics, Department of Pediatrics and Biochemistry, Miller School of Medicine, University of Miami, FL 33136, USA.
