Design and use of probes for the detection and diagnosis of Recessive Dystrophic Epidermolysis Bullosa. Particularly, the invention comprises a method for the detection and diagnosis of the c.2470insG mutation of the COL7A1 gene which is characteristic of recessive dystrophic epidermolysis bullosa. The design of specific probes allows the successful detection of mutations present in the sample analyzed, which are markers of this disease for a specific population. The present invention comprises in turn two specific allele probes: the first probe being complementary to the wild-type allele (non-mutated gene) and the second probe being complementary to the mutated allele. The present invention also comprises two primers (primers or primers) specific for amplifying the target sequence. The method in question is useful to be used in the analysis of biological samples, for research purposes or for the design of a diagnostic kit to determine the predisposition of Recessive Dystrophic Epidermolysis Bullosa.
|Estado||E-pub ahead of print - 7 abr. 2017|