FIELD: biotechnologies.
SUBSTANCE: invention relates to molecular and cellular biology and is intended for estimating number of copies of SMN1 and SMN2 genes with determination of deletion of 7 exon SMN1 gene in analysed samples of human DNA using digital droplet polymerase reaction based on method of allele-specific absolute quantification of SMN1 and SMN2 genes locus. Said result is achieved by using a quantitative approach using digital PCR and a multiplex set of primers and probes, specific 7 exon SMN1 and SMN2 genes.
EFFECT: higher accuracy of quantitative evaluation of SMN1 and SMN2 gene copies with determination of SMN1 gene exon 7 deletion in the human biological samples of interest.
1 cl, 4 dwg, 1 tbl
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