Zastavna Danuta, Makukh Halyna, Tretjak Bogdan, Bilevych Olena, Tyrka Miroslaw
Institute of Hereditary Pathology NAMS of Ukraine, Lviv.
Rzeshow University of Technology, Poland.
Genet Epigenet. 2013 Mar 10;5:17-22. doi: 10.4137/GEG.S11460. eCollection 2013.
Insulin-like growth factor-2 (IGF-2) is a mitogen, growth and differentiation modulator for many cell types. It is mainly expressed during the prenatal development, and its activity strongly depends on the genomic imprinting. Genomic imprinting in the chorionic tissues of spontaneously eliminated human embryos has been studied on the model of 820-AG (Apa1) of the IGF-2 gene locus. Molecular and genetic analysis was performed on the polymorphic 820-AG IGF2 locus in 107 samples of DNA extracted from the chorionic tissues of spontaneously eliminated human embryos within 5-10 weeks of gestation. Presence of AG genotype Apa1 single nucleotide polymorphisms of the IGF-2 was shown to cause more than a 7-fold increase in the risk of embryo elimination. Thus, the loss of genomic imprinting of the IGF-2 gene may be an important cause of the miscarriages in human.
胰岛素样生长因子-2（IGF-2）是一种有丝分裂原，对多种细胞类型具有生长和分化调节作用。它主要在产前发育期间表达，其活性强烈依赖于基因组印记。已在IGF-2基因座的820-AG（Apa1）模型上研究了自然淘汰的人类胚胎绒毛组织中的基因组印记。对妊娠5至10周内自然淘汰的人类胚胎绒毛组织提取的107份DNA样本中的多态性820-AG IGF2基因座进行了分子和遗传分析。结果显示，IGF-2的AG基因型Apa1单核苷酸多态性的存在会使胚胎淘汰风险增加7倍以上。因此，IGF-2基因的基因组印记缺失可能是人类流产的一个重要原因。
