FIELD: biochemistry.
SUBSTANCE: invention relates to biochemistry. Method for preimplantation genetic diagnosis of spinal muscular atrophy is proposed, which involves the deletion of the 7 exon of the SMN1 gene, where direct diagnostics using PCR-RFLP is carried out, along with indirect diagnostics with specific primers for inheritance analysis of molecular-genetic markers linked to a mutation. Invention can be used in genetic diagnosis.
EFFECT: method showed high specificity and efficiency, and also universality with respect to bio-samples of various types.
1 cl, 2 dwg, 2 ex
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