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    题名: Detection of altered methylation status at 11p15 and 7q32 in placental mesenchymal dysplasia
    作者: 陳持平;Chen, Chih-Ping;Su, Yi-Ning;Su, Yi-Ning;Li, Ming-Huei;Lin, Ming-Huei;Wa, Tao-Yeuan;Wang, Tao-Yeuan;Ch, Schu-Rern;Chern, Schu-Rern;Kuo, Yu-Ling;Kuo, Yu-Ling;Chen, Yu-Ting;Chen, Yu-Ting;Wang, Wayseen;Wang, Wayseen
    贡献者: 生物科技學系
    关键词: ndrogenetic/biparental mosaicism;methylation-specific multiplex ligation-dependent probe amplification;methylation-specific polymerase chain reaction;placental mesenchymal dysplasia;quantitative fluorescent polymerase chain reaction
    日期: 2014-03
    上传时间: 2014-06-04 10:20:24 (UTC+8)
    摘要: OBJECTIVE:
    This paper aims to present molecular cytogenetic and epigenetic evaluation of placental mesenchymal dysplasia (PMD).
    A 33-year-old woman was referred to the hospital at 18 weeks of gestation because of a multicystic mass in the placenta. Ultrasound showed a normal amount of amniotic fluid and a normal singleton fetus. Amniocentesis revealed a karyotype of 46,XX. Array comparative genomic hybridization analysis of amniocytes revealed no genomic imbalance. Preterm labor and premature rupture of the membranes occurred, and a female fetus was delivered with no structural abnormality. The placenta was enlarged and filled with many grape-like vesicles. In the placental cystic mass, interphase fluorescence in situ hybridization revealed diploidy and array comparative genomic hybridization revealed no genomic imbalance. Quantitative fluorescent polymerase chain reaction (QF-PCR), methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA), and methylation-specific PCR were performed in the placental cystic mass.
    MS-MLPA analysis showed hypermethylation (methylation index = 0.8) at H19 differentially methylated region (DMR) [imprinting center 1 (IC1)] at 11p15.5 and hypomethylation (methylation index = 0.2) at KvDMR1(IC2) at 11p15.5. Methylation-specific PCR assay identified hypomethylation of PEG1/MEST at 7q32, and hypermethylation at H19DMR and hypomethylation at KvDMR1 at 11p15.5. QF-PCR analysis identified androgenetic/biparental mosaicism in the placenta. The placental cystic mass was consistent with the diagnosis of PMD.
    MS-MLPA and methylation-specific PCR are useful methods for rapid detection of epigenetic alternations in PMD, and QF-PCR is useful in the diagnosis of androgenetic/biparental mosaicism.
    關聯: Taiwanese Journal of Obstetrics & Gynecology,53(1):68-73.
    显示于类别:[生物科技學系] 期刊論文


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