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Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
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2006 (English)In: Neuromuscular Disorders, ISSN 0960-8966, E-ISSN 1873-2364, Vol. 16, no 12, 830-838 p.Article in journal (Refereed) Published
Abstract [en]

Spinal muscular strophy (SMA) is an autosomal recessive disease caused by decreased levels of survival motor neuron protein (SMN). In the majority of cases, this decrease is due to absence of the SMN1 gene. Multiplex ligation-dependent probe amplification (MLPA) is a modern quantitative molecular method. Applied in SMA cases. it improves diagnostics by simultaneously identifying the number of copies of several target sequences in the SMN1 gene and in neary genes. Using MLPA in clinical diagnostics, we have identified a previously unreported, partial deletion of SMN1 (exons 1-6) in two apparently unrelated Swedish families. this mutation would not have been detected by conventional diagnostic methods. This paper illustrates the broad clinical and genetic spectrum of SMA and includes reports of MLPA results and clinical dexcriptions of a patient with homozygous absence of SMN1 and only one SMN2 (prenatal onset SMA type 1), an asymptomatic woman with five SMN2 (lacking SMN1) and representative patients with SMA types 1,2 and 3.

Place, publisher, year, edition, pages
2006. Vol. 16, no 12, 830-838 p.
Keyword [en]
MLPA, SMA, diagnostics, gene dosage
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-146539DOI: 10.1016/j.nmd.2006.08.011ISI: 000243388300004PubMedID: 17049859OAI: oai:DiVA.org:uu-146539DiVA: diva2:398525
Available from: 2011-02-18 Created: 2011-02-17 Last updated: 2011-02-18Bibliographically approved

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