title: A novel SNaPshot assay to detect genetic mutations related to iron metabolism.
abstract: 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.
authors.affiliation: Department of Biology, Anthropology Unit, University of Pisa, Pisa, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Bertoncini
authors.forename: Ruth
authors.initials: R
authors.lastname: Blanco-Rojo
authors.forename: Carlos
authors.initials: C
authors.lastname: Baeza
authors.forename: Eduardo
authors.initials: E
authors.lastname: Arroyo-Pardo
authors.forename: María Pilar
authors.initials: MP
authors.lastname: Vaquero
authors.forename: Ana Maria
authors.initials: AM
authors.lastname: López-Parra
mesh_terms: D000483:Alleles; D017931:DNA Primers; D005260:Female; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000378:metabolism*; D019189:Iron Metabolism Disorders / Q000175:diagnosis* / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000191:economics / Q000379:methods*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012680:Sensitivity and Specificity; D017422:Sequence Analysis, DNA / Q000379:methods; D012697:Serine Endopeptidases / Q000235:genetics*; D013030:Spain
chemical_list: D017931:DNA Primers; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron; D012697:Serine Endopeptidases; C504318:TMPRSS6 protein, human