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Wilson's disease is an inherited autosomal recessive  disorder of copper transport characterized by progressive copper accumulation in  the liver and the central nervous system. The disease is caused by mutations in  the  ATP7B  gene. Although many different mutations in this gene were  described, a substitution of a histidine by a glutamine residue at codon 1069  (H1069Q) accounts for approximately 30–60% of all mutations in Caucasian  patients. We describe a DNA-based method using fluorescence resonance energy  transfer probes on the LightCycler for rapid determination of the common H1069Q  mutation in the  ATP7B  gene. We screened 53 patients with Wilson's  disease for the H1069Q mutation by the melting curve analysis. The reliability  and discriminating power of this technique were documented by comparing results  of the LightCycler assay with direct DNA sequencing. The protocol allows  genotyping of 30 samples in less than 1 hour without a need for restriction  enzyme digestion or gel electrophoresis.

Rapid Detection of the Wilson's Disease H1069Q Mutation by Melting Curve Analysis with the LightCycler