METHOD FOR DETECTING p.L265P MUTATION IN MYD88 GENE Russian patent published in 2021 - IPC C12Q1/68 C12N15/00 

FIELD: medical genetics.

SUBSTANCE: invention relates to the field of medical genetics, molecular biology and can be used in oncology and hematology for the rapid detection of recurrent mutation p.L265P in the MYD88 gene using standard equipment in a wide clinical practice. DNA is isolated from the sample taken from the patient. The direct (5'-GTACTTAGATGGGGGATGGCTGTTG-3') and reverse (5'-ATTGCCTTGTACTTGATGGG ATG-3') primers flanking the region of the p.L265P mutation are used to perform PCR amplification of the MYD88 gene region potentially containing the p.L265P mutation. The resulting amplicon is treated with HinfI restriction endonuclease. Electrophoresis of restriction products is performed and when alleles with a length of 148 bp are detected; 148 bp, 124 bp and 24 bp; 124 bp and 24 bp, respectively, the p.L265P mutation in the homozygous, heterozygous state and its absence are diagnosed. The method is applicable for freshly collected, frozen biomaterial, FFPE samples, including archival ones, most of whose DNA fragments are about 200 bp long.

EFFECT: method is more sensitive compared to the known method for PCR-RFLP analysis of FFPE samples; it is simple, performed within 2 days on equipment available in clinical practice.

1 cl, 2 dwg