EDWARDS SYNDROME DETERMINATION TECHNOLOGY BY SEQUENATION METHOD Russian patent published in 2014 - IPC C12Q1/68 

FIELD: biotechnologies.

SUBSTANCE: method for determination of foetus Edwards syndrome, where from pregnant women plasma extracted is extracellular DNA, it is subjected to disulfide conversion succeeded by polymerase chain reaction and further mass parallel sequenation of differential methylated sites; as control of differential methylated sites used are sites with various levels of methylation of a mother and a foetus, data are analysed by determination of relation of reading quantities obtained by sequenation of differential methylated sites of DNA on purpose and control chromosomes, where in case of trisomyunder constant quantity of foetus DNA readings, charted on differential methylated sites of chromosomes there will be observed quantity of readings charted on purpose chromosome to quantity of readings on control chromosomes equal to 3/2, while as a norm this relation will be constant equal to 1.

EFFECT: method may be used in medicine for prenatal diagnostics of foetus transmittable diseases.

3 cl, 1 tbl