https://scholars.lib.ntu.edu.tw/handle/123456789/547812
標題: | Rapid prenatal diagnosis of Duchenne muscular dystrophy with gene duplications by ion-pair reversed-phase high-performance liquid chromatography coupled with competitive multiplex polymerase chain reaction strategy | 作者: | Huang W.-Y. Hung C.-C. CHIEN-NAN LEE Su Y.-N. Chen C.-P. |
公開日期: | 2007 | 卷: | 27 | 期: | 7 | 起(迄)頁: | 653-656 | 來源出版物: | Prenatal Diagnosis | 摘要: | Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by various mutations in the dystrophin gene. Rapid prenatal diagnosis of DMD with gene duplications is difficult due to limitation in gene dosage determination and the requirement for a known disease-causing mutation in the pedigree to achieve a rapid and accurate diagnosis. We report, here, a case with rapid prenatal diagnosis of DMD-affected male with gene duplications in the absence of a known disease-causing variation in the pedigree by using ion-pair reversed-phase high-performance liquid chromatography (IP-RP-HPLC) coupled with competitive multiplex polymerase chain reaction (PCR) protocol. In cases with clinical diagnosis of DMD/BMD, this test should identify greater than 92% of disease-causing DNA variants. The postnatal genetic diagnosis of this case and the same disease-causing mutations subsequently identified in other members of the pedigree confirmed the accuracy of competitive multiplex PCR/IP-RP-HPLC assay in direct prenatal diagnosis of DMD. Copyright ? 2007 John Wiley & Sons, Ltd. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-34547202932&doi=10.1002%2fpd.1731&partnerID=40&md5=7efdd9b28f21181502ed7ea194a4ac25 https://scholars.lib.ntu.edu.tw/handle/123456789/547812 |
ISSN: | 0197-3851 | DOI: | 10.1002/pd.1731 | SDG/關鍵字: | adult; article; case report; clinical feature; Duchenne muscular dystrophy; female; gene amplification; gene duplication; genetic variability; high performance liquid chromatography; human; polymerase chain reaction; prenatal diagnosis; priority journal; Adult; Chromatography, High Pressure Liquid; Dystrophin; Female; Gene Duplication; Humans; Male; Muscular Dystrophy, Duchenne; Pedigree; Polymerase Chain Reaction; Pregnancy; Prenatal Diagnosis; Time Factors |
顯示於: | 醫學系 |
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