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A PCR‐based method for detecting known mutations in the human UDP galactose‐4′‐epimerase gene associated with epimerase‐deficiency galactosemia
Author(s) -
Henderson JM,
Huguenin SM,
Cowan TM,
FridovichKeil JL
Publication year - 2001
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2001.600505.x
Subject(s) - galactosemia , agarose gel electrophoresis , gene , biology , point mutation , mutation , microbiology and biotechnology , complementary dna , enzyme , genetics , agarose , gene mutation , galactose , biochemistry
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.