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2
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3
Epigenetic-genetic chromosome dosage approach for fetal trisomy 21 detection using an autosomal genetic reference marker.基于常染色体遗传标记的染色体剂量遗传学-表观遗传学方法检测胎儿 21 三体
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4
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Differential DNA methylation as a tool for noninvasive prenatal diagnosis (NIPD) of X chromosome aneuploidies.作为一种非侵入性产前诊断（NIPD）X 染色体非整倍体的工具的差异 DNA 甲基化。
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10
A microarray-based approach for the identification of epigenetic biomarkers for the noninvasive diagnosis of fetal disease.基于微阵列的方法鉴定胎儿疾病无创诊断的表观遗传生物标志物。
Prenat Diagn. 2009 Nov;29(11):1020-30. doi: 10.1002/pd.2335.

发现用于胎儿疾病无创诊断的表观遗传生物标志物。

Discovery of epigenetic biomarkers for the noninvasive diagnosis of fetal disease.

机构信息

Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA.

出版信息

Prenat Diagn. 2012 Jun;32(6):542-9. doi: 10.1002/pd.3853. Epub 2012 Apr 11.

DOI:10.1002/pd.3853
PMID:22495992
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4308692/
Abstract

OBJECTIVES

The primary goal of this study was to identify CpG sites in the human genome that are differentially methylated in DNA obtained from chorionic villus sampling (CVS) samples and gestational age-matched maternal blood cell (MBC) samples.

METHODS

We used the HumanMethylation27 DNA Analysis BeadChip to characterize DNA methylation in samples of CVS and MBC. We then selected a subset of differentially methylated CpG sites on chromsome 13 and subjected them to analysis by mass spectrometry using the Epityper platform.

RESULTS

We identified 718 tissue-specific differentially methylated regions (DMRs) between MBC and CVS; 563 of these were hypermethylated in MBC and hypomethylated in CVS, whereas 155 sites were hypomethylated in MBC and hypermethylated in CVS. Further analysis of 13 DMRs on chromosome 13 by Epityper confirmed the microarray data and provided us with additional data about the methylation patterns of surrounding CpG sites.

CONCLUSIONS

Analysis of the resulting data identified a large number of cytosine-guanine dinucleotides that are potential biomarkers for the selective amplification of fetal DNA from maternal plasma and the subsequent noninvasive detection of trisomy 13.

摘要

目的

本研究的主要目的是鉴定人类基因组中在取自绒毛膜绒毛取样（CVS）样本和与妊娠年龄匹配的母血细胞（MBC）样本中的 DNA 中存在差异甲基化的 CpG 位点。

方法

我们使用 HumanMethylation27 DNA Analysis BeadChip 来描述 CVS 和 MBC 样本中的 DNA 甲基化。然后，我们选择了在第 13 号染色体上的一组差异甲基化 CpG 位点，并使用 Epityper 平台通过质谱分析对其进行分析。

结果

我们在 MBC 和 CVS 之间鉴定出了 718 个组织特异性差异甲基化区域（DMR）；其中 563 个在 MBC 中呈高甲基化，在 CVS 中呈低甲基化，而 155 个在 MBC 中呈低甲基化，在 CVS 中呈高甲基化。通过 Epityper 对第 13 号染色体上的 13 个 DMR 的进一步分析证实了微阵列数据，并为我们提供了有关周围 CpG 位点甲基化模式的更多数据。

结论

对所得数据的分析确定了大量的胞嘧啶-鸟嘌呤二核苷酸，它们可能是从母体血浆中选择性扩增胎儿 DNA 并随后非侵入性检测三体 13 的潜在生物标志物。