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Molecular Diagnostics and Genetics Systematic Search for Placental DNA- Methylation Markers on Chromosome 21: Toward a Maternal Plasma-Based Epigenetic Test for Fetal Trisomy 21

By Stephen S. C. Chim, Shengnan Jin, Tracy Y. H. Lee, Fiona M. F. Lun, Wing S. Lee, Lisa Y. S. Chan, Yongjie Jin, Ningning Yang, Yu K. Tong, Tak Y. Leung, Tze K. Lau, Chunming Ding, Rossa W. K. Chiu and Y. M. Dennis Lo


BACKGROUND: The presence of fetal DNA in maternal plasma represents a source of fetal genetic material for noninvasive prenatal diagnosis; however, the coexisting background maternal DNA complicates the analysis of aneuploidy in such fetal DNA. Recently, the SERPINB5 gene on chromosome 18 was shown to exhibit different DNA-methylation patterns in the placenta and maternal blood cells, and the allelic ratio for placenta-derived hypomethylated SERPINB5 in maternal plasma was further shown to be useful for noninvasive detection of fetal trisomy 18. METHODS: To develop a similar method for the noninvasive detection of trisomy 21, we used methylation-sensitive single nucleotide primer extension and/or bisulfite sequencing to systematically searc

Year: 2013
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