METHOD FOR MAPPING SPINAL MUSCULAR ATROPHY (“SMA”) LOCUS AND OTHER COMPLEX GENOMIC REGIONS USING MOLECULAR COMBING

摘要

A molecular-combing, Genetic-Morse Code based method enabling the detection and high-resolution characterization of complex regions of genomic DNA, such as the SMA locus, with molecular combing. A method for the identification of biomarkers associated to the cis-duplication of SMN1 gene or segments of other complex parts of the genome. Biomarkers identified by this method which are composed of a sets of different colored probes, such as those disclosed for the SMA region.