METHOD OF IDENTIFICATION OF MUTATIONS 2282del4, R501X, R2447X IN GENES OF FILAGGRIN (FLG) WITH VULGAR ICHTYOSIS AND ATOPIC DERMATITIS Russian patent published in 2018 - IPC G01N33/50 C12Q1/68 C12Q1/34 

FIELD: medicine.

SUBSTANCE: invention relates to the field of medicine, in particular to dermatology. Method is proposed for the detection of mutations of 2282del4, R501X and R2447X in the filaggrin gene (FLG) with vulgar ichthyosis and atopic dermatitis. DNA isolation, polymerase chain reaction using primers, detection of mutations 2282del4, R501X and R2447X by electrophoresis is performed. In the presence of alleles, 83 bp and 79 bp; 129 bp, 109 bp and 20 bp; 179 bp, 159 bp and 20 bp diagnose heterozygous carrier mutations 2282del4, R501X and R2447X. In the presence of alleles, 79 bp, 129 bp or 179 bp diagnose the homozygous carriage of mutations 2282del4, R501X or R2447X.

EFFECT: invention makes it possible to identify patients with atopic dermatitis with a violation of the barrier function of the epidermis.

1 cl, 8 dwg, 2 ex