Rapid prenatal confirmation of LIT1 hypomethylation using a novel quantitative method (E-Q-PCR) in fetuses with Beckwith-Wiedemann syndrome impressed with ultrasonography.
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.
Ma
Gwo-Chin
GC
Department of Medical Research, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan.
Chang
Shuenn-Dyh
SD
Chang
Yu
Y
Chang
Shun-Ping
SP
Yang
Chin-Wen
CW
Lee
Ming-Jen
MJ
Lee
Tsung-Hsien
TH
Chen
Ming
M
D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis* / Q000235:genetics*; D019175:DNA Methylation; D004252:DNA Mutational Analysis / Q000379:methods; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics; D011296:Prenatal Diagnosis / Q000379:methods*; D015203:Reproducibility of Results; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods*; D012680:Sensitivity and Specificity; D016216:Ultrasonography, Prenatal / Q000379:methods
C485621:KCNQ1OT1 long non-coding RNA, human; D024642:Potassium Channels, Voltage-Gated