UTILIZATION OF NUCLEOTIDE PROBES FOR THE MEASUREMENT OF SPECIFIC MESSENGER RNA: APPLICATION FOR MOLECULAR DIAGNOSIS OF AUTOSOMAL RECESSIVE SPINAL MUSCULAR ATROPHY

Autor:	Philippe Poindron, K. V. Nguyen, Jean-Marie Warter, C.-M. Wolff, D. Meyer
Rok vydání:	2002
Předmět:	Messenger RNA Chemistry Biochemistry (medical) Clinical Biochemistry Spinal muscular atrophy Motor neuron Spinal cord medicine.disease SMA Biochemistry Molecular biology Muscle atrophy Analytical Chemistry medicine.anatomical_structure Biotinylation Electrochemistry medicine medicine.symptom Gene Spectroscopy
Zdroj:	Analytical Letters. 35:1135-1148
ISSN:	1532-236X 0003-2719
Popis:	Spinal muscular atrophy (SMA) is a lethal autosomal recessive disease. SMA is characterized by degeneration of motor neurons in the spinal cord, causing progressive weakness of the limbs and trunk, followed by muscle atrophy. The gene most highly associated with SMA is the survival motor neuron (SMN) gene. This paper describes the results concerning the development of a quantitative method for the molecular diagnosis of SMA by measuring the amount of cytosolic mRNA from human muscle cells. The procedures using radioactive material and the Enzyme-Linked Immunosorbent Assay (ELISA) non-radioactive method were developed using 32P-dCTP labeled and biotinylated nucleotide probes, respectively; the results obtained demonstrate that the measurement of specific mRNA could be used as a quantitative method for the molecular diagnosis of SMA. There was a perfect concordance of the results obtained between the procedure using radioactive material, the ELISA method and the single-strand conformation polymorph...
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::89b6de11d01ff8b6575e37753e769831 https://doi.org/10.1081/al-120005963 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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