Sample-to-SNP kit: A reliable, easy and fast tool for the detection of HFE p.H63D and p.C282Y variations associated to hereditary hemochromatosis
| Autor: | Mette Refstrup, Karin M. Hansen, Maja S. Petersen, Vibeke Blaabjerg, Viviana Ystaas, Rolf V. Andersen, Peter B. Nielsen |
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| Rok vydání: | 2012 |
| Předmět: |
Genotype
Iron PCSK9 Histocompatibility Antigens Class I Genetic Variation Membrane Proteins Reproducibility of Results Single-nucleotide polymorphism ZNF202 General Medicine Biology Polymerase Chain Reaction Polymorphism Single Nucleotide Molecular biology Hereditary hemochromatosis Genetics TaqMan biology.protein Humans SNP Kexin Taq Polymerase Hemochromatosis Hemochromatosis Protein Genotyping |
| Zdroj: | Gene. 507:79-84 |
| ISSN: | 0378-1119 |
| DOI: | 10.1016/j.gene.2012.06.020 |
| Popis: | Classical hereditary hemochromatosis involves the HFE -gene and diagnostic analysis of the DNA variants HFE p.C282Y (c.845G > A; rs1800562) and HFE p.H63D (c.187C > G; rs1799945). The affected protein alters the iron homeostasis resulting in iron overload in various tissues. The aim of this study was to validate the TaqMan-based Sample-to-SNP protocol for the analysis of the HFE -p.C282Y and p.H63D variants with regard to accuracy, usefulness and reproducibility compared to an existing SNP protocol. The Sample-to-SNP protocol uses an approach where the DNA template is made accessible from a cell lysate followed by TaqMan analysis. Besides the HFE -SNPs other eight SNPs were used as well. These SNPs were: Coagulation factor II-gene F2 c.20210G > A, Coagulation factor V-gene F5 p.R506Q (c.1517G > A; rs121917732), Mitochondria SNP: mt7028 G > A, Mitochondria SNP: mt12308 A > G, Proprotein convertase subtilisin/kexin type 9-gene PCSK9 p.R46L (c.137G > T), Plutathione S-transferase pi 1-gene GSTP1 p.I105V (c313A > G; rs1695), LXR g.-171 A > G, ZNF202 g.-118 G > T. In conclusion the Sample-to-SNP kit proved to be an accurate, reliable, robust, easy to use and rapid TaqMan-based SNP detection protocol, which could be quickly implemented in a routine diagnostic or research facility. |
| Databáze: | OpenAIRE |
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