Genotyping of two mutations in the HFE gene using single-base extension and high-performance liquid chromatography

Citation
Jm. Devaney et al., Genotyping of two mutations in the HFE gene using single-base extension and high-performance liquid chromatography, ANALYT CHEM, 73(3), 2001, pp. 620-624
Citations number
24
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Chemistry & Analysis","Spectroscopy /Instrumentation/Analytical Sciences
Journal title
ANALYTICAL CHEMISTRY
ISSN journal
0003-2700 → ACNP
Volume
73
Issue
3
Year of publication
2001
Pages
620 - 624
Database
ISI
SICI code
0003-2700(20010201)73:3<620:GOTMIT>2.0.ZU;2-Z
Abstract
Currently, a major focus of human genetics is the utilization of single-nuc leotide polymorphisms for clinical diagnostics, whole-genome linkage disequ ilibrium screens to identify common disease genes such as Alzheimer disease , determination of the recent evolutionary history of a species, and the pr ocess of speciation, We have examined single-nucleotide extension coupled w ith highperformance liquid chromatography as a method to simultaneously gen otype two SNPs occurring in the coding region of the HFE gene that produce clinical effects. This assay allows concurrent genotyping of the C282Y and H63D mutations in 11 min and is 100% concordant with current testing method s for both of these mutations.