A PCR-based method for detecting known mutations in the human UDP galactose-4′-epimerase gene associated with epimerase-deficiency galactosemia
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 wer...
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Published in | Clinical genetics Vol. 60; no. 5; pp. 350 - 355 |
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Main Authors | , , , |
Format | Journal Article |
Language | English |
Published |
Copenhagen
Munksgaard International Publishers
01.11.2001
Blackwell |
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Abstract | 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. |
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AbstractList | 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. |
Author | Henderson, JM Huguenin, SM Cowan, TM Fridovich-Keil, JL |
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Cites_doi | 10.1073/pnas.72.12.5026 10.1023/A:1005682913784 10.1023/A:1005699719068 10.1023/A:1005342306080 10.1086/302263 10.1086/515517 10.1006/bmme.1995.1048 10.1006/mgme.1997.2645 |
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Keywords | 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 |
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Snippet | Epimerase‐deficiency galactosemia results from impairment of the human enzyme UDP galactose‐4′‐epimerase (GALE). We report a rapid, internally controlled... Epimerase-deficiency galactosemia results from impairment of the human enzyme UDP galactose-4'-epimerase (GALE). We report a rapid, internally controlled... |
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SubjectTerms | 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 |
Title | A PCR-based method for detecting known mutations in the human UDP galactose-4′-epimerase gene associated with epimerase-deficiency galactosemia |
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