Maternal plasma RNA sequencing for genome-wide transcriptomic profiling and identification of pregnancy-associated transcripts.

Autor:	Tsui NB; Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, and., Jiang P; Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, and., Wong YF; Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, and., Leung TY; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China., Chan KC; Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, and., Chiu RW; Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, and., Sun H; Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, and., Lo YM; Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, and loym@cuhk.edu.hk.
Jazyk:	angličtina
Zdroj:	Clinical chemistry [Clin Chem] 2014 Jul; Vol. 60 (7), pp. 954-62. Date of Electronic Publication: 2014 Apr 16.
DOI:	10.1373/clinchem.2014.221648
Abstrakt:	Background: Analysis of circulating RNA in the plasma of pregnant women has the potential to serve as a powerful tool for noninvasive prenatal testing and research. However, detection of circulating RNA in the plasma in an unbiased and high-throughput manner has been technically challenging. Therefore, only a limited number of circulating RNA species in maternal plasma have been validated as pregnancy- and placenta-specific biomarkers. Methods: We explored the use of massively parallel sequencing for plasma transcriptome profiling in first-, second-, and third-trimester pregnant women. Genotyping was performed for amniotic fluid, placental tissues, and maternal blood cells, with exome-enriched sequencing. Results: In the early pregnancy group comprising 1 first- and 1 second-trimester pregnancy cases, the fetal contribution to the RNA pool in maternal plasma was 3.70%. The relative proportion of fetal contribution was increased to 11.28% in the late pregnancy group comprising 2 third-trimester pregnancy cases. The placental biallelic expression pattern of PAPPA (pregnancy-associated plasma protein A, pappalysin 1), a known pregnancy-specific gene, and the monoallelic expression pattern of H19 [H19, imprinted maternally expressed transcript (non-protein coding)], an imprinted maternally expressed gene, were also detected in the maternal plasma. Furthermore, by direct examination of the maternal plasma transcriptomic profiles before and after delivery, we identified a panel of pregnancy-associated genes. Conclusions: Plasma RNA sequencing provides a holistic view of the maternal plasma transcriptomic repertoire. This technology is potentially valuable for using circulating plasma nucleic acids for prenatal testing and research. (© 2014 The American Association for Clinical Chemistry.)
Databáze:	MEDLINE
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