Анеуплоидия в цито трофобласте эмбрионов человека с различным глобальным уровнем метилирования генома

Abstract

In this study, we investigated the frequency of aneuploidy of chromosomes 8 and X in human embryonic tissues with different level of global genome methylation. A comparative analysis of the methylation index of LINE-1 retrotransposon, which is largely reflecting the methylation profile of the genome, is performed in cytotrophoblast cells of 24 spontaneous abortions with a normal karyotype, as well as in the control group of 17 induced abortions of the first trimester of pregnancy. It was shown that the cytotrophoblast of spontaneous abortions with normal karyotype and with hypomethylation of LINE-1 is characterized by increased frequency of aneuploidy of chromosome 8, however, the frequency of aneuploidy of X chromosome was not differed significantly between the explored groups of abortions. In addition, it should be noted, that the high frequency of aneuploidy in the cytotrophoblast cells of abortions was much higher than it was detected in other tissues of the human organism.