SET OF SYNTHETIC OLIGONUCLEOTIDES FOR IDENTIFYING NUCLEOTIDE SEQUENCE OF CODING PART OF NKX2,5, CFC1, GATA4 GENES AND RECOGNISING MUTATIONS ASSOCIATED WITH ORPHAN SINGLE-GENE PATHOLOGY UNDERLYING FAMILIAR CONGENITAL HEART DISEASE

摘要

FIELD: medicine.;SUBSTANCE: set is used to recognise mutations of a coding part of NKX2.5, CFC1, GATA4 genes associated with an orphan single-gene pathology underlying familiar congenital heart disease. The mutations are recognised by identifying a nucleotide sequence of the coding part of NKX2.5, CFC1, GATA4 genes. The coding part of NKX2.5, CFC1, GATA4 genes is amplified by means of 15 synthetic base pairs at the same temperature and annealing time; that is followed by sequencing the amplification products by means of one pair of universal primers.;EFFECT: invention enables recognising the mutations of the above genes sensitively and specifically, reducing the amplification reaction time, the number of manipulations, the agent addition time for the sequencing reaction and decreasing a probability of the reaction error.;3 cl, 1 dwg, 4 tbl