METHOD OF DIAGNOSING POLYMORPHISM G.114437192-114439942DEL OF SLAC4A2 GENE, WHICH CAUSES LETHAL GENETIC DEFECT OF OSTEOPETROSIS IN CATTLE Russian patent published in 2023 - IPC C12Q1/68 

FIELD: molecular genetics.

SUBSTANCE: invention relates to the methods of determining polymorphism of genes associated with lethal recessive genetic defects in cattle. A method has been proposed for diagnosing the g.114437192_114439942del polymorphism of SLC4A2 gene, which causes a lethal genetic defect of osteopetrosis in Aberdeen-Angus, Hereford, Holstein, Friesian and Simmental cattle. The method involves analyzing DNA isolated from animal biomaterial, namely skin, blood, sperm, milk, etc., using allele-specific PCR using three primers: one forward and two reverse, followed by electrophoresis in an agarose gel. To amplify the desired DNA fragments the following is used: oligonucleotide primers with a length of 20 nucleotide pairs with a melting point of 62°C containing 55% of guanine-cytosine and amplified DNA fragments 532 bp long. for the healthy allele and 229 bp. for the mutant one.

EFFECT: invention makes it possible to identify g.114437192_114439942del polymorphism in SLC4A2 gene of cattle associated with the haplotype of the carrier of the genetic defect osteopetrosis (OS), which then allows the results obtained to be used in the breeding and selection of cattle within breeding and commercial farms of the beef cattle industry.

1 cl, 1 dwg, 1 ex