Rapid prenatal confirmation of LIT1 hypomethylation using a novel quantitative method (E-Q-PCR) in fetuses with Beckwith-Wiedemann syndrome impressed with ultrasonography
Journal
Fertility and Sterility
Journal Volume
90
Journal Issue
4
Pages
1279-1282
Date Issued
2008
Author(s)
Abstract
We described a simplified and high-performance test (E-Q-PCR) for rapid assessment of the DNA methylation status at LIT1, a major genetic locus of Beckwith-Wiedemann syndrome (BWS). The E-Q-PCR test can detect and quantify the methylation changes between BWS fetuses and unaffected individuals in aminocytes as well as in lymphocytes and can be completed in 1 working day, and thus is a useful method for prenatal molecular diagnosis of BWS. ? 2008 American Society for Reproductive Medicine.
SDGs
Other Subjects
endonuclease; protein lit1; unclassified drug; untranslated RNA; article; Beckwith Wiedemann syndrome; clinical article; DNA methylation; echography; female; fetus; gene locus; human; human cell; infant; leukocyte; lymphocyte; polymerase chain reaction; prenatal diagnosis; priority journal; quantitative analysis; Beckwith-Wiedemann Syndrome; DNA Methylation; DNA Mutational Analysis; Genetic Predisposition to Disease; Genetic Screening; Humans; Potassium Channels, Voltage-Gated; Prenatal Diagnosis; Reproducibility of Results; Reverse Transcriptase Polymerase Chain Reaction; Sensitivity and Specificity; Ultrasonography, Prenatal
Type
journal article