Evaluation of high-resolution melting analysis for screening the LDL receptor gene

Clinical Biochemistry
Andrew D Laurie, P M George

Abstract

High-resolution melting analysis has been validated for screening several genes of clinical significance. We evaluated whether it would be useful for detecting mutations in the LDL receptor gene (LDLR). We analysed 60 samples heterozygous for different LDLR sequence variants, and compared the melting curves to those of the corresponding homozygous normal amplicons to assess whether they would be detected in a mutation scanning screen using melting analysis. Although six mutations in exon 4 did not yield usable melting data, 96% (52/54) of the other variants were detected by the melting analysis, while two variants were poorly resolved. Melting analysis is a rapid and sensitive mutation scanning technique, but is not suitable for some GC-rich amplicons such as LDLR exon 4, or exons with high frequencies of benign polymorphisms which would require follow-up DNA sequencing. We developed a successful strategy which combines melting analysis with direct sequencing of problematic amplicons.

References

Feb 22, 2002·Human Mutation·Caroline F BunnPeter M George
Jun 1, 2002·BMJ : British Medical Journal·Dalya MarksH Andrew W Neil
Mar 12, 2003·Molecular and Cellular Probes·Rosario LiguoriVincenzo De Simone
May 27, 2003·Clinical Chemistry·Carl T WittwerRobert J Pryor
Jul 2, 2005·Current Opinion in Lipidology·S Gaye Hadfield, Steve E Humphries
Jul 11, 2006·Clinica Chimica Acta; International Journal of Clinical Chemistry·Eleftheria Laios, Euridiki Drogari
Sep 29, 2007·Clinical Chemistry·Andrew D LauriePeter M George

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Citations

Apr 26, 2011·Nutrition & Metabolism·Akl C Fahed, Georges M Nemer
Jan 10, 2012·Pathology·Robert BenderJohn R Burnett
Jan 1, 2013·Asian-Australasian Journal of Animal Sciences·Jin PengSong-Jia Lai
Mar 11, 2010·Expert Review of Molecular Diagnostics·Jesse L MontgomeryCarl T Wittwer
Jul 21, 2017·Frontiers in Plant Science·Cynthia J DenbowSakiko Okumoto

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