Clinical Chemistry
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Clinical Chemistry 44: 68-71, 1998;
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(Clinical Chemistry. 1998;44:68-71.)
© 1998 American Association for Clinical Chemistry, Inc.

Molecular Pathology and Genetics

Molecular diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by oligonucleotide ligation assay

Eeva-Liisa Romppanen1, Tarja Mononen1, and Ilkka Mononen1,2,a

1 Department of Clinical Chemistry, Kuopio University Hospital, P.O. Box 1777, FIN-70211 Kuopio, Finland.

2 Department of Biochemistry and Biotechnology, University of Kuopio, FIN-70211 Kuopio, Finland.
a Author for correspondence. Fax 358-17-173186;

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a recessively inherited defect in the mitochondrial ß-oxidation of fatty acids. A single nucleotide change, the A985->G transition, in the MCAD gene accounts for ~90% of all the disease-causing mutations in the patients. We have used PCR to amplify a segment of the human MCAD gene and typed the allelic sequence variation at base 985 by a colorimetric oligonucleotide ligation assay (OLA). PCR/OLA provides a technique that permits differentiation of the homozygotes, heterozygotes, and normals for the A985->G allele in the MCAD gene. Genotyping of 1908 random Finnish DNA samples by OLA identified 10 carriers of the mutant allele, but no homozygotes were found. The calculated carrier frequency for the A985->G mutation was 1:191 (95% confidence limits, 1:118–1:501), and the calculated frequency for the A985->G homozygotes was 1:147 000 (95% confidence limits, 1:56 000–1:1 004 000).




The following articles in journals at HighWire Press have cited this article:


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 Hum Mol GenetHome page
T. Pastinen, M. Perola, J. Ignatius, C. Sabatti, P. Tainola, M. Levander, A.-C. Syvanen, and L. Peltonen
Dissecting a population genome for targeted screening of disease mutations
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E.-L. Romppanen and I. Mononen
PCR-Oligonucleotide Ligation Assay from Dried Blood Spots
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 Clin. Chem.Home page
M. Tuchman
Molecular Diagnosis of Medium-Chain Acyl-CoA Dehydrogenase Deficiency by Oligonucleotide Ligation Assay
Clin. Chem., January 1, 1998; 44(1): 10 - 11.
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