Use of arrays of specific sequences of the human mitochondrial genome on solid support and procedure for the detection of mutations associated with the optic neuropathy of leber. (Machine-translation by Google Translate, not legally binding)

摘要

Use of arrays of specific sequences of human mitochondrial genome on solid support and procedure for the detection of mutations associated with leber's optic neuropathy, using dna chips. The procedure is based on the amplification of the fragments that contain the mutations and polymorphisms of interest and the determination of the base involved in them by means of a minisequencing reaction using primers that carry a tail (tag) at its 5 end. Detection by hybridizing the products of the mini-sequencing reaction with a microarray consisting of sequences complementary to the tails (ctag). (Machine-translation by Google Translate, not legally binding)