Clinical Chemistry
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Clinical Chemistry 43: 1630-1634, 1997;
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(Clinical Chemistry. 1997;43:1630-1634.)
© 1997 American Association for Clinical Chemistry, Inc.

Articles

Detecting familial defective apolipoprotein B-100: three molecular scanning methods compared

Bryony G. Henderson, Philip R. Wenhama, J. Peter Ashby and Gillian Blundell

Department of Clinical Biochemistry, Western General Hospital, Edinburgh EH4 2XU, UK.
a Author for correspondence. Fax 44-131-537-1023.

Familial defective apolipoprotein (apo) B-100 (FDB), a condition that may give rise to hypercholesterolemia, is caused by mutations around codon 3500 of the apo B gene. We have compared the ability of three molecular-scanning techniques, heteroduplex analysis, single-strand conformation polymorphism (SSCP) analysis, and denaturing gradient gel electrophoresis (DGGE), to detect these mutations in a cohort of 432 hypercholesterolemic individuals. Heteroduplex analysis and DGGE detected 11 individuals with apo B mutations, 9 of whom were heterozygous for apo B R3500Q and 2 who were heterozygous for apo B R3531C. Whereas DGGE was able to distinguish between these two mutations, heteroduplex analysis was technically simpler and gave a higher sample throughput. In contrast, SSCP analysis detected only 7 of the R3500Q and none of the R3531C heterozygotes and was the most complex of the three techniques. We believe heteroduplex analysis to be the method of choice for screening large numbers of samples for FDB.




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


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N. Jacobsen, M. Fenger, J. Bentzen, S. L. Rasmussen, M. H. Jakobsen, J. Fenstholt, and J. Skouv
Genotyping of the Apolipoprotein B R3500Q Mutation Using Immobilized Locked Nucleic Acid Capture Probes
Clin. Chem., April 1, 2002; 48(4): 657 - 660.
[Full Text] [PDF]

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E. Fisher, H. Scharnagl, M. M. Hoffmann, K. Kusterer, D. Wittmann, H. Wieland, W. Gross, and W. Marz
Mutations in the Apolipoprotein (apo) B-100 Receptor-binding region: Detection of apo B-100 (Arg3500->Trp) Associated with Two New Haplotypes and Evidence That apo B-100 (Glu3405->Gln) Diminishes Receptor-mediated Uptake of LDL
Clin. Chem., July 1, 1999; 45(7): 1026 - 1038.
[Abstract] [Full Text] [PDF]


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