FIELD: medicine; clinical laboratory diagnostics.
SUBSTANCE: invention can be used to diagnose the carriage of the mutant VPS33A gene with the c.1492C>T mutation leading to the development of mucopolysaccharidosis-plus syndrome with autosomal recessive inheritance in the Yakut population. DNA extraction is carried out. Polymerase chain reaction with fluorescent detection using a pair of primers and hydrolysis probes is conducted. The mutant type c.1492T in the VPS33A gene is diagnosed by the presence of a fluorescence signal through the FAM channel, the wild type c.1492C is diagnosed through the ROX channel, and the carriage of the mutant gene in the heterozygous state is diagnosed through the ROX and FAM channels.
EFFECT: method provides improved accuracy of c.1492C>T mutation detection in exon 12 of VPS33A gene, high sensitivity and specificity at a low cost of research, as well as increasing the availability of such studies through the use of two pairs of primers and hydrolysis probes labeled with fluorescent dyes ROX and FAM.
1 cl, 2 dwg, 1 tbl
