METHOD OF DIAGNOSTICS OF GENETIC DISORDERS IN PATHOLOGY OF HUMAN REPRODUCTION PROCESS Russian patent published in 2018 - IPC C12Q1/6827 

FIELD: biotechnology.

SUBSTANCE: invention relates to biotechnology. Invention is a method for diagnosing genetic disorders that are the cause of infertility of married couples, including a complex determination of mutations in the genes of thrombophilia, folate cycle and HLA alleles, where the evaluation of genes in the homozygous and heterozygous states is carried out in accordance with the developed scoring scale, assigning the following values to the genetic factors in the blood samples of women: F2 G/A – 4 points, F2 A/A – 5 points, F5 G/A – 4 points, F5 A/A – 5 points, F7 G/A – 0 points, F7 A/A – -1 point, F13 G/T – 0 points, F13 T/T – -1 point, FGB G/A – 1 point, FGB A/A – 2 points, ITGA2 C/T – 2 points, ITGA2 T/T – 1 point, ITGB3 T/C – 3 points, ITGB3 C/C – 3 points, PAI-1 5G/4G – 1 point, PAI-1 4G/4G – 3 points, MTHFR:677 C/T – 2 points, MTHFR:677 T/T – 3 points, MTHFR: 1298 A/C – 1 point, MTHFR: 1298 C/C – 2 points, MTR A/G – 2 points, MTR G/G – 1 point, MTRR A/G – 1 point, MTRR G/G – 2 points; if the spouses share one public specificity of the HLA system – 0 points, two – 1 points, three – 2 points, four – 3 points, five – 4 points, six or seven – 5 points, eight – 6 points, nine – 7 points, ten – 8 points, there are no public specificities – -1 point; with a total score of 18 and more, the conclusion is made that infertility is highly associated with genetic causes, the probability is above the average – 14–17 points, infertility is not determined by genetic factors – 13 points or less; a conclusion on a favorable prognosis for assisted reproductive technologies is made with a total score of 13 or less.

EFFECT: method provides early and accurate diagnosis of genetic causes of reproductive damage.

1 cl, 4 tbl, 2 ex