BMC Pregnancy Childbirth
October 2024
Whole-exome sequencing (WES) is frequently utilized in diagnosing reproductive genetic disorders to identify various genetic variants. Canonical ±1,2 splice sites are typically considered highly pathogenic, while variants at the 5' or 3' ends of exon boundaries are often considered synonymous or missense variants, with their potential impact on abnormal gene splicing frequently overlooked. In this study, we identified five variants located at the last two bases of the exons and two canonical splicing variants in five distinct families affected by reproductive genetic disorders through WES.
View Article and Find Full Text PDFBackground: Unexplained recurrent spontaneous abortion (URSA) is a common pregnancy complication and the etiology is unknown. URSA-associated lncRNAs are expected to be potential biomarkers for diagnosis, and might be related to the disease pathogenesis.
Objective: To investigate differential lncRNAs in peripheral blood of non-pregnant URSA patients and matched healthy control women and to explore the possible mechanism of differential lncRNAs leading to URSA.
Taiwan J Obstet Gynecol
November 2019
Objective: To determine the expression profiles of circular RNAs (circRNAs) of women with severe pre-eclampsia (sPE group) versus normal pregnancies (normal control group).
Materials And Methods: RNA-sequencing (RNA-seq) was conducted to characterize differentially expressed circRNAs and mRNAs in the placental tissues of women with sPE versus normal pregnancies. circRNA functions were predicted by Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) database analysis.