Genotyping of two mutations in the HFE gene using ...[Anal Chem. 2001]

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1: Anal Chem. 2001 Feb 1;73(3):620-4.Links

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

Devaney JM, Pettit EL, Kaler SG, Vallone PM, Butler JM, Marino MA.

Transgenomic Inc., Gaithersburg, Maryland 20878, USA. jdevaney@transgenomic.com

Currently, a major focus of human genetics is the utilization of single-nucleotide polymorphisms for clinical diagnostics, whole-genome linkage disequilibrium screens to identify common disease genes such as Alzheimer disease, determination of the recent evolutionary history of a species, and the process of speciation. We have examined single-nucleotide extension coupled with high-performance liquid chromatography as a method to simultaneously genotype 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 methods for both of these mutations.

PMID: 11217771 [PubMed - indexed for MEDLINE]

Novel method for molecular detection of the two common hereditary hemochromatosis mutations.
Genet Test. 2000; 4(2):125-9.

[Genet Test. 2000]
Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay.
BMC Med Genet. 2007 Nov 23; 8:69. Epub 2007 Nov 23.

[BMC Med Genet. 2007]
Genotyping of hemochromatosis-associated mutations in the HFE gene by PCR-RFLP and a novel reverse hybridization method.
Clin Chem Lab Med. 2002 Feb; 40(2):122-5.

[Clin Chem Lab Med. 2002]
ReviewDetection of C282Y and H63D in the HFE gene.
Genet Test. 2000; 4(2):115-20.

[Genet Test. 2000]
ReviewHereditary hemochromatosis since discovery of the HFE gene.
Clin Chem. 2001; 47(7):1147-56.

[Clin Chem. 2001]
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Cited by 1 PubMed Central article

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Hurtle W, Lindler L, Fan W, Shoemaker D, Henchal E, Norwood D. J Clin Microbiol. 2003 Jul; 41(7):3273-83.

[J Clin Microbiol. 2003]

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