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Clinical Chemistry 48: 769-772, 2002;
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(Clinical Chemistry. 2002;48:769-772.)
© 2002 American Association for Clinical Chemistry, Inc.

Technical Briefs

HFE Genotyping by Amplification Refractory Mutation System–Denaturing HPLC

Serge Pissard1a, Lam-Thuy-Ai Huynh1, Josiane Martin1 and Michel Goossens1

1 Laboratory of Biochemistry and Human Molecular Genetics and INSERM U 468, Hôpital Henri-Mondor, AP-HP, 51 Av du Maréchal de Lattre de Tassigny, 94010 Créteil, France

aauthor for correspondence: fax 00-33-1-49-81-28-42, e-mail serge.pissard@im3.inserm.fr

Hereditary hemochromatosis [(HC); MIM 235200] is one of the most frequent genetic diseases in Caucasian populations [prevalence up to 1 in 300 in northern Europe, with an estimated carrier frequency of 1 in 10 (1)]. Caused by a progressive iron overload, it is characterized by severe complications and a potentially lethal progression that could be entirely prevented with regular iron removal by means of bleeding (2). The availability of effective preventive treatment highlights the value of early detection. The discovery of the HFE gene by Feder et al. (3) has yielded a genetic test for disease risk. Two mutations, C282Y and H63D, located respectively in exons 4 and 2, impair HFE function (4) and are frequently tested for, along with a third variant located on exon 2 (S65C). Two genotypes (C282Y homozygote and compound heterozygote C282Y/H63D) are associated with risk of HC (5).

Because many could benefit from testing, numerous methods have been described in addition to conventional PCR restriction assays (3). Described methods include real-time PCR with fluorescent probes (6)(7)(8)(9) or SYBR green® melting curve (10), conventional PCR restriction assay with the use of HPLC (11) or capillary electrophoresis to resolve restriction fragments, allele-specific PCR products resolved on slab gels (12)(13) or by capillary electrophoresis (14)(15), and PCR followed by a single-nucleotide extension step (11), electrochemiluminescence detection (16), or reverse hybridization assay (17)(18).

Denaturing HPLC (DHPLC) is a new method for single- nucleotide polymorphism detection, which has been effective in terms of cost per analysis, sensitivity, and specificity (19). However, one limitation of DHPLC is that in . . . [Full Text of this Article]


References




The following articles in journals at HighWire Press have cited this article:


Home page
 Clin. Chem.Home page
S. Fruchon, M. Bensaid, N. Borot, M.-P. Roth, and H. Coppin
Use of Denaturing HPLC and a Heteroduplex Generator to Detect the HFE C282Y Mutation Associated with Genetic Hemochromatosis
Clin. Chem., May 1, 2003; 49(5): 822 - 824.
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