The Identifcation of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test
Journal Title: Sultan Qaboos University Medical Journal - Year 2013, Vol 13, Issue 4
Abstract
Objectives: Pompe disease (glycogen storage disease type II) is a rare autosomal recessive lysosomal storage disease that is caused by acid alpha-glucosidase defciency. Early enzyme replacement therapy can beneft infants with the disease but the diagnosis is complicated by the rarity of the disease and the heterogeneity of the clinical manifestations. In this study, DNA extracted from archival postmortem formalin-fxed parafn-embedded tissues was used to identify Pompe disease mutations in Oman and develop a rapid molecular-based test. Methods: Intronic primers were designed to amplify short fragments (193–454 base pairs [bp]) from coding exons (2–20) and screen for mutations using direct sequencing (DS). Results: Two mutations known to cause severe disease were identifed in two samples. One was a coding mutation, c.2560C>T (p.Arg854X), and the second was found at a splice acceptor site, c.1327-2A>G. Polymerase chain reaction- and restriction fragment length polymorphism-based tests were designed for the rapid genotyping of the identifed mutations. Conclusion: Tese tests can facilitate prenatal diagnosis and help in identifying carriers in families with the identifed mutations.
Authors and Affiliations
Aliya Alansari| Department of Biology, College of Science, Sultan Qaboos University Hospital, Samira Al-Rawahi| Department of Pathology and 3Genetics, Sultan Qaboos University Hospital, Taher Ba-Omar| Department of Biology, College of Science, Sultan Qaboos University Hospital, Mariam Al-Nabhani| Department of Genetics, Sultan Qaboos University Hospital, Anand Date| Department of Pathology, College of Medicine & Health Sciences, Sultan Qaboos University, Muscat, Oman
Keywords
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