Wells Dagan, Bermúdez Mercedes G, Steuerwald Nury, Malter Henry E, Thornhill Alan R, Cohen Jacques
Department of Obstetrics and Gynecology, Yale University Medical School, New Haven, Connecticut 06520, USA.
Fertil Steril. 2005 Aug;84(2):343-55. doi: 10.1016/j.fertnstert.2005.01.143.
We set out to characterize the expression of nine genes in human preimplantation embryos and determine whether abnormal morphology is associated with altered gene activity.
Reverse transcription and real-time polymerase chain reaction were used to quantify the expression of multiple genes in each embryo. The genes studied have various important cellular roles (e.g., cell cycle regulation, DNA repair, and apoptosis).
Research laboratory working closely with a clinical IVF practice.
PATIENT(S): Over 50 embryos were donated by infertile patients (various etiologies). Among these, all major stages of preimplantation development and a variety of common morphologic abnormalities were represented.
INTERVENTION(S): None.
MAIN OUTCOME MEASURE(S): Quantification of mRNA transcripts.
RESULT(S): We detected an association between certain forms of abnormal morphology and disturbances of gene activity. Cellular fragmentation was associated with altered expression of several genes, including TP53, suggesting that fragmenting blastomeres are suffering stress of a type monitored by p53, possibly as a consequence of suboptimal culture conditions.
CONCLUSION(S): Appropriate gene expression is vital for the regulation of metabolic pathways and key developmental events. Our data indicates a possible causal relationship between changes in gene expression and the formation of clinically relevant abnormal embryo morphologies. We hypothesize that embryos with expression profiles characteristic of good morphology and appropriate for their developmental stage have the greatest potential for implantation. If confirmed, this could lead to a new generation of preimplantation genetic diagnosis (PGD) tests for assessing embryo viability and predicting implantation potential.
我们旨在描述人类植入前胚胎中9个基因的表达特征，并确定异常形态是否与基因活性改变有关。
采用逆转录和实时聚合酶链反应来定量每个胚胎中多个基因的表达。所研究的基因具有多种重要的细胞功能（如细胞周期调控、DNA修复和细胞凋亡）。
与临床体外受精机构密切合作的研究实验室。
不孕患者（病因多样）捐赠了50多个胚胎。其中涵盖了植入前发育的所有主要阶段以及各种常见的形态学异常。
无。
mRNA转录本的定量分析。
我们检测到某些形式的异常形态与基因活性紊乱之间存在关联。细胞碎片化与包括TP53在内的多个基因的表达改变有关，这表明分裂的卵裂球正承受着p53所监测的某种类型的应激，这可能是培养条件欠佳的结果。
适当的基因表达对于代谢途径的调节和关键发育事件至关重要。我们的数据表明基因表达变化与临床相关异常胚胎形态形成之间可能存在因果关系。我们推测，具有良好形态特征且与其发育阶段相适应的表达谱的胚胎具有最大的着床潜力。如果得到证实，这可能会导致新一代的植入前基因诊断（PGD）测试，用于评估胚胎活力和预测着床潜力。
