Loss of Imprinting of IGF2 Gene in the Chorionic Tissues of Spontaneously Eliminated Human Embryos.

Genetics and Epigenetics Pub Date : 2013-03-10 eCollection Date: 2013-01-01 DOI:10.4137/GEG.S11460
Danuta Zastavna, Halyna Makukh, Bogdan Tretjak, Olena Bilevych, Miroslaw Tyrka
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引用次数: 3

Abstract

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.

Abstract Image

Abstract Image

IGF2基因印迹在自然淘汰的人类胚胎绒毛膜组织中的缺失。
胰岛素样生长因子-2 (IGF-2)是多种细胞类型的有丝分裂原、生长和分化调节剂。它主要在产前发育过程中表达,其活性强烈依赖于基因组印记。在IGF-2基因位点的820-AG (Apa1)模型上研究了自发消除的人胚胎的绒毛膜组织中的基因组印迹。从妊娠5 ~ 10周自然淘汰人胚胎的绒毛膜组织中提取107份DNA样本,对其820-AG IGF2多态性位点进行了分子和遗传分析。IGF-2的AG基因型Apa1单核苷酸多态性的存在导致胚胎消除的风险增加7倍以上。因此,IGF-2基因基因组印记的缺失可能是人类流产的重要原因。
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