DETECTION OF MUTATIONS IN ATP7B GENE USING PCR-LDR

摘要

The present invention relates to a detection method of a mutation in an ATP7B (ATPase, Cu++ transporting, beta polypeptide) gene using a polymerase chain reaction (PCR) and ligase detection reaction (LDR); to a method for providing information required for the diagnosis of Wilsons disease by using the detection method; and to a composition for the diagnosis of Wilsons disease, which includes a PCR primer set for the amplification of a mutation in an ATP7B gene and an LDR probe set for detection of the mutation. The method for providing information required for diagnosis of Wilsons disease comprises the following steps: performing a PCR process to amplify a fragment including the mutated portion of an ATP7B gene by using DNA separated from a clinical specimen as a template; and performing an LDR process of a PCR product to detect a mutation in an ATP7B gene.