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Clinical Chemistry 37: 1983-1987, 1991;
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Clinical Chemistry, Vol 37, 1983-1987, Copyright © 1991 by American Association for Clinical Chemistry

Rapid diagnosis of familial defective apolipoprotein B-100 by Amplification Refractory Mutation System

PR Wenham, CR Newton, RS Houlston and WH Price
Department of Clinical Chemistry, Western General Hospital, Edinburgh, U.K.

We report a method for the diagnosis of familial defective apolipoprotein (apo) B-100, using the Amplification Refractory Mutation System (ARMS) and either whole blood or extracted DNA in the polymerase chain reaction. Normal and mutant alleles are identified by using two allele-specific oligonucleotide primers, each with the same common primer, to amplify a 187-bp fragment of the apo B-100 gene. Fragment amplification occurs only when the allele-specific primer matches the nucleotide sequence of the template DNA. The amplification product is detected by agarose gel electrophoresis, followed by staining with ethidium bromide. The technique is simple, reliable, and robust. It avoids the use of radiation or hybridization with allele-specific oligonucleotide probes, and is well suited for use in the routine clinical chemistry department.




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Copyright © 1991 by the American Association for Clinical Chemistry.