Rapid Detection of Deletion Mutations in Inherited Metabolic Diseases by Melting Curve Analysis with LightCycler

1 January 2000

journal article
research article
Published by Oxford University Press (OUP) in Clinical Chemistry

Vol. 46 (1) , 119-122
https://doi.org/10.1093/clinchem/46.1.119

Abstract

Recently, non-gel electrophoresis-requiring, fluorophore probe-based rapid techniques have been introduced to detect known single-point mutations using the LightCycler^TM (Roche Molecular Biochemicals) (1)(2)(3)(4). This technique provides very rapid analytical time, real-time detection, and visualized images. Many inherited metabolic diseases are caused not only by single-point mutations but also by small deletion mutations. However, no studies have been reported on the detection of such deletion mutations using the LightCycler. Using melting curve analysis with the LightCycler, we have succeeded in rapidly detecting a 2-bp deletion mutation in genomic DNA of a patient with Fabry disease and a 9-bp deletion mutation in cDNA of a patient with carbamoyl-phosphate synthase I (CPS1; EC 6.3.4.16) deficiency.

Keywords

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