DIAGNOSTIC TECHNIQUE FOR PATIENT'S DISPOSITION TO STARGARDT MACULAR DEGENERATION

摘要

FIELD: medicine.;SUBSTANCE: what is presented is a diagnostic technique for patient's disposition to Stargardt macular degeneration. Patient's skin fibroblasts are cultured and prepared by viral constructs carrying the genes Oct4, Sox2 and Klf4 under the control of CMV promotor. That is followed by the targeted fibroblast differentiation into retinal cells. Coding RNA of the gene ABCA4 is recovered from the retinal cells. If observing the delection in exon 39-41 of the gene ABCA4, patient's disposition to Stargardt macular degeneration is diagnosed.;EFFECT: invention provides the effective diagnosing of patient's disposition to Stargardt macular degeneration.;3 dwg, 1 tbl, 1 ex