Rapid prenatal confirmation of LIT1 hypomethylation using a novel quantitative method (E-Q-PCR) in fetuses with Beckwith-Wiedemann syndrome impressed with ultrasonography

Gwo-Chin Ma; Shuenn-Dyh Chang; Yu Chang; Shun-Ping Chang; Chin-Wen Yang; Ming-Jen Lee; Tsung-Hsien Lee; Ming Chen

doi:10.1016/j.fertnstert.2007.10.075

Rapid prenatal confirmation of LIT1 hypomethylation using a novel quantitative method (E-Q-PCR) in fetuses with Beckwith-Wiedemann syndrome impressed with ultrasonography

Fertil Steril. 2008 Oct;90(4):1279-82. doi: 10.1016/j.fertnstert.2007.10.075. Epub 2008 Feb 4.

Authors

Gwo-Chin Ma¹, Shuenn-Dyh Chang, Yu Chang, Shun-Ping Chang, Chin-Wen Yang, Ming-Jen Lee, Tsung-Hsien Lee, Ming Chen

Affiliation

¹ Department of Medical Research, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan.

PMID: 18249379
DOI: 10.1016/j.fertnstert.2007.10.075

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.

Publication types

Evaluation Study
Research Support, Non-U.S. Gov't

MeSH terms

Beckwith-Wiedemann Syndrome / diagnosis*
Beckwith-Wiedemann Syndrome / genetics*
DNA Methylation
DNA Mutational Analysis / methods
Genetic Predisposition to Disease / genetics
Genetic Testing / methods*
Humans
Potassium Channels, Voltage-Gated / genetics
Prenatal Diagnosis / methods*
Reproducibility of Results
Reverse Transcriptase Polymerase Chain Reaction / methods*
Sensitivity and Specificity
Ultrasonography, Prenatal / methods

Substances

KCNQ1OT1 long non-coding RNA, human
Potassium Channels, Voltage-Gated