METHOD OF SCREENING NEWBORNS FOR MONOGENIC DISEASES AND BIOCHIP FOR SAID METHOD REALISATION

摘要

FIELD: medicine.;SUBSTANCE: presence or absence of DNA mutations is determined by hybridisation of obtained fragments on specialised oligonucleotide biochip. For this purpose used are amplification of PAH, CFTR, PAX8, GALT genes and obtaining of single-strand fluorescently marked product by method of nick-translation and restriction, prepared is biochip for screening of newborns for diseases, which contains set of immobilised oligonucleotides SEQ ID NO: 1-82. Interpretation of hybridisation results is carried out by comparison of intensity of fluorescent signals, obtained in perfect and imperfect hybridisation.;EFFECT: invention allows to obtain novel accelerated method of mass screening of newborns for presence of predisposition to monogenic diseases.;5 cl, 4 tbl, 4 ex