DIFFERENTIAL DIAGNOSTIC METHOD, KIT, CHIP FOR THE DYSTROPHIN GENE DELETION, DUPLICATION, POINT MUTATION AND DMD/BMD SCREENING TEST THERETHROUGH

摘要

PURPOSE: A kit, a chip and a method for determining gene deletion, duplication, point mutation of dystrophin are provided to shorten test time and reduce analysis cost. CONSTITUTION: A method for determining deletion, duplication, point mutation of human dystrophin comprises: a step of producing a chip on which a probe is spotted; a step of isolating genomic DNA from a sample; a step of amplifying DNA to obtain a target DNA amplified product; a step of analyzing point mutation using an automated sequencing; a step of performing hybridization reaction between multiplex-PCR reaction product and probe which is fixed on the chip surface; and a step of scanning the chip with laser to measure fluorescence intensity according to the hybridized reaction result and analyzing exon deletion, duplication mutation.