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

Gwo Chin Ma, Shuenn Dyh Chang, Yu Chang, Shun Ping Chang, Chin Wen Yang, Ming Jen Lee, Tsung Hsien Lee, Ming Chen^*

^*Corresponding author for this work

School of Medicine

Research output: Contribution to journal › Journal Article › peer-review

4 Scopus citations

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.

Original language	English
Pages (from-to)	1279-1282
Number of pages	4
Journal	Fertility and Sterility
Volume	90
Issue number	4
DOIs	https://doi.org/10.1016/j.fertnstert.2007.10.075
State	Published - 10 2008

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10.1016/j.fertnstert.2007.10.075

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

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.",

author = "Ma, {Gwo Chin} and Chang, {Shuenn Dyh} and Yu Chang and Chang, {Shun Ping} and Yang, {Chin Wen} and Lee, {Ming Jen} and Lee, {Tsung Hsien} and Ming Chen",

year = "2008",

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volume = "90",

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T1 - Rapid prenatal confirmation of LIT1 hypomethylation using a novel quantitative method (E-Q-PCR) in fetuses with Beckwith-Wiedemann syndrome impressed with ultrasonography

AU - Ma, Gwo Chin

AU - Chang, Shuenn Dyh

AU - Chang, Yu

AU - Chang, Shun Ping

AU - Yang, Chin Wen

AU - Lee, Ming Jen

AU - Lee, Tsung Hsien

AU - Chen, Ming

PY - 2008/10

Y1 - 2008/10

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=52949112309&partnerID=8YFLogxK

U2 - 10.1016/j.fertnstert.2007.10.075

DO - 10.1016/j.fertnstert.2007.10.075

M3 - 文章

C2 - 18249379

AN - SCOPUS:52949112309

SN - 0015-0282

VL - 90

SP - 1279

EP - 1282

JO - Fertility and Sterility

JF - Fertility and Sterility

IS - 4

ER -

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

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