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Open Access 01-12-2005 | Technical advance

Detection of large deletions in the LDL receptor gene with quantitative PCR methods

Authors: Dorte Damgaard, Peter H Nissen, Lillian G Jensen, Gitte G Nielsen, Anette Stenderup, Mogens L Larsen, Ole Faergeman

Published in: BMC Medical Genetics | Issue 1/2005

Abstract

Background

Familial Hypercholesterolemia (FH) is a common genetic disease and at the molecular level most often due to mutations in the LDL receptor gene. In genetically heterogeneous populations, major structural rearrangements account for about 5% of patients with LDL receptor gene mutations.

Methods

In this study we tested the ability of two different quantitative PCR methods, i.e. Real-Time PCR and Multiplex Ligation-Dependent Probe Amplification (MLPA), to detect deletions in the LDL receptor gene. We also reassessed the contribution of major structural rearrangements to the mutational spectrum of the LDL receptor gene in Denmark.

Results

With both methods it was possible to discriminate between one and two copies of the LDL receptor gene exon 5, but the MLPA method was cheaper, and it was far more accurate and precise than Real-Time PCR. In five of 318 patients with an FH phenotype, MLPA analysis revealed five different deletions in the LDL receptor gene.

Conclusion

The MLPA method was accurate, precise and at the same time effective in screening a large number of FH patients for large deletions in the LDL receptor gene.

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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/6/15/prepub

Title: Detection of large deletions in the LDL receptor gene with quantitative PCR methods
Authors: Dorte Damgaard
Peter H Nissen
Lillian G Jensen
Gitte G Nielsen
Anette Stenderup
Mogens L Larsen
Ole Faergeman
Publication date: 01-12-2005
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2005
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/1471-2350-6-15

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Detection of large deletions in the LDL receptor gene with quantitative PCR methods

Abstract

Background

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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