FIELD: medicine; pharmaceuticals; clinical genetics.
SUBSTANCE: following is proposed: a method of assessing the effectiveness of therapeutic constructs in vitro aimed at increasing the level of full-length SMN transcripts. The principle is to determine the proportion of full-length and truncated SMN transcripts in a sample after performing RT-PCR with primers complementary to the sequences of exons 6 and 8 of the SMN1 and SMN2 genes, followed by visualization of the amplification products using electrophoresis. The invention makes it possible to evaluate the effectiveness of therapeutic constructs aimed at increasing the level of full-length SMN transcripts in vitro.
EFFECT: invention can be used to analyze the effect of therapeutic medicinal products aimed at correcting pre-mRNA splicing of SMN2 gene, as well as those based on the delivery of a functional copy of SMN1 gene in a cell model of SMA.
1 cl, 5 dwg, 2 ex
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