Article
Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene.
Clinica chimica acta; international journal of clinical chemistry - 9 Nov 1991
Gregersen N, Blakemore A I, Winter V, Andresen B, Kølvraa S, Bolund L, Curtis D, Engel P C
Abstract excerpt
The discovery of a point-mutation, adenine-to-guanine, at position 985 in the gene coding for MCAD (G985), gave the basis for an easy and specific polymerase chain reaction test. We tested the specificity of such a PCR based assay and detected correctly G985 and A985 in sequence verified cDNA clones. We showed that the G985 mutation is present in genomic DNA from 48 of 50 patients with confirmed MCAD deficiency,...
Topics
- Acyl-CoA Dehydrogenase
- Acyl-CoA Dehydrogenases
- Adenine
- Base Sequence
- DNA
- Guanine
- Humans
- Lipid Metabolism, Inborn Errors
- Molecular Sequence Data
- Mutation