Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A new method to identify the G1528C mutation in genomic DNA showing its high frequency (≈90%) and identification of a new mutation (T2198C)

Journal of Inherited Metabolic Disease

Volumn 19, Issue 2, 1996, Pages 165-168

  Ijlst, L ^a   Ruiter, J P N ^a   Vreijling, J ^a   Wanders, R J A ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; COMPLEMENTARY DNA; DNA;

CONFERENCE PAPER; ENZYME DEFICIENCY; FIBROBLAST CULTURE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; POINT MUTATION; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SKIN FIBROBLAST;

3-HYDROXYACYL COA DEHYDROGENASES; BASE SEQUENCE; CELLS, CULTURED; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DNA MUTATIONAL ANALYSIS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0029984560     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799420     Document Type: Article

References (6)

1. Boom R, Sol CJA, Salimans MMM, Jansen CL, Wertheim-Van Dillen PME, Van der Noorda J (1990) Rapid and simple method for purification of nucleic acids. J Clin Microbiol 28: 495-503.
2. Carpenter K, Pollitt RJ, Middleton B (1992) Human liver long-chain 3-hydroxyacyl coenzyme A dehydrogenase is a multifunctional membrane-bound β-oxidation enzyme of mitochondria. Biochem Biophys Res Commun 183: 443-448.
3. Ijlst L, Wanders RJA, Ushikubo S, Kamijo T, Hashimoto T (1994) Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Biochim Biophys Acta 1215: 347-350.
4. Ijlst L, Ushikubo S, Kamijo T, et al (1995) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype. J Inker Metab Dis 18: 241-244.
5. Uchida Y, Izai K, Orii T, Hashimoto T (1992) Novel fatty acid β-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-CoA hydratase.3-hydroxyacyl-CoA dehydrogenase/3-ketothiolase trifunctional protein. J Biol Chem 167: 1034-1041.
6. Zhang QX, Baldwin GS (1995) Structures of the human cDNA and gene encoding the 78kDa gastrin-binding protein and of a related pseudogene. Biochim Biophys Acta 1219: 567-575.