METHOD FOR DIAGNOSING VARIANT SOPH c.5741G>A IN NBAS GENE Russian patent published in 2024 - IPC G01N33/58 C12Q1/6806 C12Q1/6827 C12Q1/686 C12Q1/6876 C12Q1/6883 

FIELD: medicine.

SUBSTANCE: invention relates to medicine, namely to clinical laboratory diagnostics, and can be used for diagnosis of carriage of mutant gene NBAS with mutation c.5741G>A, leading to development of SOPH-syndrome with autosomal recessive type of inheritance in Yakut population. DNA is recovered. Polymerase chain reaction with fluorescent detection is carried out. Presence of a fluorescence signal on the R6G channel is used to diagnose mutant type c.5741A in the NBAS gene. ROX channel is used to diagnose wild type c.5741G in the NBAS gene. Combined fluorescence of the ROX and R6G channels is used to diagnose the carriage of the mutant gene in a heterozygous state.

EFFECT: method provides simpler and higher accuracy of determining mutation c.5741G>A in 45 exon of the NBAS gene, high sensitivity and specificity at low cost of analysis due to use of a pair of specific primers (SEQ ID NO 1 and 2) and hydrolysis probes (SEQ ID NO 3 and 4).

1 cl, 2 dwg, 1 tbl