|Title:||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||Authors:||Huang W.-Y.
|Issue Date:||2007||Journal Volume:||27||Journal Issue:||7||Start page/Pages:||653-656||Source:||Prenatal Diagnosis||Abstract:||
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.
|ISSN:||0197-3851||DOI:||10.1002/pd.1731||SDG/Keyword:||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
|Appears in Collections:||醫學系|
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.