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有关母体循环中游离胎儿DNA的研究一直是热点。胎儿核酸以惊人的稳定性存在于母体循环中,可能由于凋亡体中存在某些保护机制,游离胎儿DNA在母体循环中大量产生和快速变化更为妊娠过程提供了动力学依据。综合各学科理论和现有数据,认为母体循环中游离胎儿核酸主要来源于胎盘,其次也有部分来自胎儿造血细胞系统。由于母体循环中胎儿DNA的相对容易检测,胎儿非整倍体病、子痫前期、胎儿RhD基因型和一些单基因遗传病的诊断与鉴别手段应运而生。有关非性别依赖基因多态性、外遗传标志物以及循环mRNA序列研究的进展最终将使此类技术不受胎儿性别限制而推广应用。
Research on free fetal DNA in maternal circulation has been a hot spot. Fetal nucleic acid is present in the maternal circulation with an astonishing stability. It may be due to the existence of some protective mechanisms in apoptotic bodies. Free fetal DNA provides a kinetic basis for pregnancy in large quantities and rapid changes in the maternal circulation. Based on the theories of various disciplines and available data, it is concluded that the fetal nucleic acid is mainly derived from the placenta, followed by the fetal hematopoietic cell system. Due to the relatively easy detection of fetal DNA in the maternal circulation, diagnostic and differential methods for fetal aneuploidy, preeclampsia, fetal RhD genotypes and some single-gene genetic diseases have emerged. Advances in the study of polymorphisms in non-sex-dependent genes, epigenetic markers, and circulating mRNA sequences will eventually lead to the adoption of such technologies beyond fetal sex restrictions.