2024-03-28T14:00:03Zhttp://digital.csic.es/dspace-oai/requestoai:digital.csic.es:10261/549212017-05-24T13:44:28Zcom_10261_70com_10261_2col_10261_323
Bertoncini, S.
Blanco Rojo, R.
Baeza-Richer, Carlos
Arroyo Pardo, E.
Vaquero, M. Pilar
López Parra, Ana M.
2012-08-22T09:38:30Z
2012-08-22T09:38:30Z
2011-01
Genetic Testing and Molecular Biomarkers 15 (3): 173-179 (2011)
1945-0265
http://hdl.handle.net/10261/54921
10.1089/gtmb.2010.0140
The 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.
eng
closedAccess
A novel snapshot assay to detect genetic mutations related to iron metabolism
artículo