MOLECULAR GENETIC SYSTEM FOR DETECTION OF DELETION SMN1 EXON 7 SUITABLE FOR NEONATAL SCREENING Russian patent published in 2023 - IPC C12N15/11 G01N33/48 

Abstract RU 2796350 C1

FIELD: biotechnology.

SUBSTANCE: invention relates to medical genetics and molecular biology and can be used for neonatal screening of 5q spinal muscular atrophy. Described is a process for detecting homozygous deletion of exon 7 of the SMN1 and SMN2 genes used for neonatal screening for 5q spinal muscular atrophy. It involves performing asymmetric PCR from blood stains on filter paper, followed by analysis of the melting curve of duplexes of complementary sequences of exon 7 of the SMN genes (SMN1 and SMN2) formed by hybridization probes of SEQ ID NO:3 and SEQ ID NO:4 and sequences of exon 7 of the gene and pseudogene.

EFFECT: performing neonatal screening using a process for detecting a homozygous deletion of SMN1 and SMN2 exon 7.

1 cl, 3 dwg, 1 tbl

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RU 2 796 350 C1

Authors

Polyakov Aleksandr Vladimirovich

Blagodatskikh Konstantin Aleksandrovich

Zabnenkova Viktoriya Vladimirovna

Kutsev Sergej Ivanovich

Shchagina Olga Anatolevna

Chausova Polina Aleksandrovna

Chukhrova Alena Lvovna

Dates

2023-05-22Published

2021-12-16Filed