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Neurology India
Medknow Publications on behalf of the Neurological Society of India
ISSN: 0028-3886 EISSN: 0028-3886
Vol. 58, No. 1, 2010, pp. 99-102
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Bioline Code: ni10020
Full paper language: English
Document type: Report
Document available free of charge
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Neurology India, Vol. 58, No. 1, 2010, pp. 99-102
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A rapid polymerase chain reaction-based test for screening Steinert's disease (DM1)
Hamzi, Khalil; Bellayou, Hanane; Slassi, Ilham & Nadifi, Sellama
Abstract
Myotonic dystrophy (DM) is a multisystemic neuromuscular disorder caused by a dynamic mutation of (CTG) trinucleotide repeats in the 3′ untranslated region of the myotonic dystrophy protein kinase gene (DMPK). The aim of the present study was to establish the use of polymerase chain reaction (PCR)-based simple and rapid method for initial sample screening. Only a minority of samples were tested positive with the above method and need to be detected by tri primer (TP)-PCR and Southern blotting which is more time consuming and involves use of radioactive material. This study concerned 24 patients from nine families with a clinical diagnosis of the DM1. DNA extracted from the blood was used for amplification of the triplet repeat sequences at the DMPK loci. We obtained two bands for the normal subjects and one band for patients corresponding to normal DMPK allele, confirmed by the TP-PCR and the Southern blot. This rapid test for initial screening of samples for the presence of DMPK mutations is economical and reliable method. This method reduces the number of samples needing TP-PCR and Southern blotting.
Keywords
DM1, polymerase chain reaction, steinert′s disease, trinucleotide repeats CTG
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