Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil; Department of Anatomy and Embryology, Leiden University Medical Center, Leiden, the Netherlands; Department of Gynecology and Obstetrics, Ribeirão Preto Medical School, University of Sao Paulo, Sao Paulo, Brazil.
Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.
Fertil Steril. 2019 Jun;111(6):1186-1193. doi: 10.1016/j.fertnstert.2019.01.036. Epub 2019 Mar 25.
To investigate the levels of DNA methylation in the KvDMR1 (KvLQT1 differentially methylated region 1) in embryonic and extra-embryonic tissues.
Cross-sectional study.
University medical center and clinical hospital.
PATIENT(S): Embryonic and/or extraembryonic tissues (umbilical cord, chorionic villus, chorion, decidua, and/or amnion) collected from 27 first-trimester pregnancies (up to 12 weeks of gestation, single embryos) from elective abortions, extravillous trophoblasts (EVTs) from the top of individual chorionic villi, and chorionic villi from 10 normal full-term placentas collected after birth.
INTERVENTION(S): None.
MAIN OUTCOME MEASURE(S): DNA methylation of the KvDMR1 region evaluated using quantitative analysis of DNA methylation followed by real-time polymerase chain reaction (qAMP) and bisulfite sequencing (bis-seq) analysis.
RESULT(S): The results showed variability in KvDMR1 DNA methylation in different tissues from the same pregnancy. The average of DNA methylation was not different between the embryo, umbilical cord, amnion, and chorionic villi, despite the relatively low level of methylation observed in the amnion (33.50% ± 14.48%). Chorionic villi from term placentas showed a normal methylation pattern at KvDMR1 (42.60% ± 6.08%). The normal methylation pattern at KvDMR1 in chorionic villi (as well as in EVTs) from first-trimester placentas was confirmed by bis-seq.
CONCLUSION(S): Our results highlight an existing heterogeneity in DNA methylation of the KvDMR1 region during first trimester and a consistent hypomethylation in the amnion in this period of gestation.
研究胚胎和胚胎外组织中 KvDMR1（KvLQT1 差异甲基化区域 1）的 DNA 甲基化水平。
横断面研究。
大学医学中心和临床医院。
从 27 例选择性流产的 1 期妊娠（最多 12 周妊娠，单胎）中收集的胚胎和/或胚胎外组织（脐带、绒毛膜绒毛、绒毛膜、蜕膜和/或羊膜）、来自个体绒毛顶部的绒毛外滋养细胞（EVT）和从 10 例正常足月分娩后收集的胎盘绒毛膜。
无。
使用定量 DNA 甲基化分析（qAMP）和亚硫酸氢盐测序（bis-seq）分析评估 KvDMR1 区域的 DNA 甲基化。
结果显示，来自同一妊娠的不同组织中 KvDMR1 DNA 甲基化存在变异性。尽管羊膜中观察到的甲基化水平相对较低（33.50%±14.48%），但胚胎、脐带、羊膜和绒毛膜之间的平均 DNA 甲基化没有差异。足月胎盘的绒毛膜显示 KvDMR1 处的正常甲基化模式（42.60%±6.08%）。来自 1 期胎盘的绒毛膜（以及 EVT）中 KvDMR1 的正常甲基化模式通过 bis-seq 得到证实。
我们的研究结果强调了胚胎早期 KvDMR1 区域 DNA 甲基化存在异质性，以及在此妊娠期间羊膜中持续低甲基化。
