SET OF SPECIFIC HYBRIDIZATION PROBES FOR DETERMINATION OF CHANGES IN HUMAN LYSOSOME-ASSOCIATED PROTEIN-2 (LAMP2) GENE BY MLPA METHOD FOR DIAGNOSTICS OF DANONE'S DISEASE Russian patent published in 2022 - IPC C12Q1/6806 

FIELD: molecular biology; medical genetics.

SUBSTANCE: invention relates to the field of molecular biology and medical genetics. Highly sensitive hybridization probes to nine coding exons of LAMP2 gene are developed for multiplex ligation-dependent probe amplification (hereinafter – MLPA). Probes are intended for studying changes in a structure of human LAMP2 gene for research purposes and for diagnostics of Danone’s disease, if suspected by clinical signs: cardiomyopathy, skeletal myopathy, and mental retardation in men; cardiomyopathy in women. Danone’s disease is consequence of mutations in LAMP2 gene coding lysosome-associated membrane protein 2. Among pathogenic mutations in this gene, described in ClinVar, 5.6% accounts for large reconstructions with a size from 50 bp to 50 kb. Developed probes are intended for detection of deletions and duplications in LAMP2 gene, assessment of its copyability by sensitive and cheap MLPA method.

EFFECT: invention allows for search for changes in LAMP2 gene in patients diagnosed with idiopathic cardiomyopathy.

1 cl, 6 dwg, 1 tbl, 4 ex