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首页> 外文期刊>Epigenetics: official journal of the DNA Methylation Society >Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi
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Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi

机译：甲基化分析绒毛膜绒毛中的Beckwith-Wiedemann综合征产前诊断

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Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder that can be prenatally suspected or diagnosed based on established clinical guidelines. Molecular confirmation is commonly performed on amniocytes. The possibility to use fresh (CVF) and cultured (CVC) chorionic villi has never been investigated. To verify whether CVF and CVC are reliable sources of DNA to study fetal methylation, we used pyrosequencing to test the methylation level of a number of differentially methylated regions (DMRs) at several imprinted loci (ICR1, ICR2, H19, PWS/AS-ICR, GNASXL, GNAS1A, ZAC/PLAGL1, and MEST) and at non-imprinted MGMT and RASSF1A promoters. We analyzed these regions in 19 healthy pregnancies and highlighted stable methylation levels between CVF and CVC at ICR1, ICR2, GNASXL, PWS/AS-ICR, and MEST. Conversely, the methylation levels at H19 promoter, GNAS1A and ZAC/PLAGL1 were different in CVC compared to fresh CV. We also investigated ICR1 and ICR2 methylation level of CVF/CVC of 2 BWS-suspected fetuses (P1 and P2). P1 showed ICR2 hypomethylation, P2 showed normal methylation at both ICR1 and ICR2. Our findings, although limited to one case of BWS fetus with an imprinting defect, can suggest that ICR1 and ICR2, but not H19, could be reliable targets for prenatal BWS diagnosis by methylation test in CVF and CVC. In addition, PWS/AS-ICR, GNASXL, and MEST, but not GNAS1A and ZAC/PLAGL1, are steadily hemimethylated in CV from healthy pregnancies, independently from culture. Thus, prenatal investigation of genomic imprinting in CV needs to be validated in a locus-specific manner.
机译：Beckwith-Wiedemann综合征（BWS）是一种印记性疾病，可根据既定的临床指南对产前进行怀疑或诊断。分子确认通常在羊膜细胞上进行。从未研究过使用新鲜（CVF）和培养（CVC）绒毛膜绒毛的可能性。为了验证CVF和CVC是否是研究胎儿甲基化的可靠DNA来源，我们使用焦磷酸测序测试了几个印迹位点（ICR1，ICR2，H19，PWS / AS-ICR）上许多差异甲基化区域（DMR）的甲基化水平，GNASXL，GNAS1A，ZAC / PLAGL1和MEST）以及非印迹的MGMT和RASSF1A启动子。我们分析了19例健康妊娠中的这些区域，并突出显示了ICR1，ICR2，GNASXL，PWS / AS-ICR和MEST的CVF和CVC之间稳定的甲基化水平。相反，与新鲜CV相比，CVC中H19启动子，GNAS1A和ZAC / PLAGL1的甲基化水平不同。我们还调查了2名BWS怀疑胎儿（P1和P2）的CVF / CVC的ICR1和ICR2甲基化水平。 P1显示ICR2低甲基化，P2在ICR1和ICR2均显示正常甲基化。我们的发现，尽管仅限于一例带有印迹缺陷的BWS胎儿，但可以表明ICR1和ICR2（而非H19）可以作为通过CVF和CVC中的甲基化测试诊断产前BWS的可靠目标。此外，PWS / AS-ICR，GNASXL和MEST（而非GNAS1A和ZAC / PLAGL1）在健康怀孕的CV中稳定地半甲基化，而与培养无关。因此，需要以特定于位点的方式验证CV中基因印记的产前调查。

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