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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
Author(s) -
Huang WanYi,
Hung ChiaCheng,
Lee ChienNan,
Su YiNing,
Chen ChihPing
Publication year - 2007
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1731
Subject(s) - duchenne muscular dystrophy , prenatal diagnosis , denaturing high performance liquid chromatography , multiplex polymerase chain reaction , polymerase chain reaction , muscular dystrophy , multiplex ligation dependent probe amplification , gene , gene duplication , multiplex , medicine , mutation , genetics , biology , microbiology and biotechnology , fetus , pregnancy , exon
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.