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Title

A novel snapshot assay to detect genetic mutations related to iron metabolism

AuthorsBertoncini, S.; Blanco Rojo, R. ; Baeza-Richer, Carlos; Arroyo Pardo, E.; Vaquero, M. Pilar ; López Parra, Ana M.
Issue DateJan-2011
PublisherMary Ann Liebert
CitationGenetic Testing and Molecular Biomarkers 15 (3): 173-179 (2011)
AbstractThe minisequencing method is a cost-effective tool to study single-nucleotide polymorphisms in human disease. For this reason, a novel polymerase chain reaction multiplex SNaPshot reaction has been developed that targets 10 autosomal mutations in genes, or regions near to them, reported to be involved in iron metabolism: TMPRSS6, TF, and HFE. To validate this multiplex, 284 samples from unrelated women from the Spanish population were tested at a fertile age. The novel polymerase chain reaction multiplex SNaPshot reaction developed is a very simple, sensitive, and low-cost approach, and therefore will be useful as a tool of clinic diagnosis in iron metabolism alterations and to replicate results obtained from genome-wide linkage analysis.
Description7 páginas.
URIhttp://hdl.handle.net/10261/54921
DOI10.1089/gtmb.2010.0140
ISSN1945-0265
Appears in Collections:(ICTAN) Artículos
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