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A PCR-SSP method for detecting the Cys282Tyr mutation in the HFE gene associated with hereditary haemochromatosis.

Histocompatibility Laboratory, National Blood Service (Trent Centre), Sheffield, UK.

Hereditary haemochromatosis is a common genetic disorder that causes hyperabsorption of dietary iron, leading to increased deposition and various organic diseases. Early diagnosis is important if effective treatment is to be applied and the iron overload corrected before the onset of clinical symptoms. Recently, a candidate gene has been identified in which a single point mutation shows a very close association with hereditary haemochromatosis. A polymerase chain reaction method using sequence specific primers (PCR-SSP) is described that, in conjunction with a simple DNA extraction method, would provide a specific diagnostic test or rapid screening procedure for this putative haemochromatosis associated mutation.

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				G. G. Donohoe, M. Laaksonen, K. Pulkki, T. Ronnemaa, and V. Kairisto Rapid Single-Tube Screening of the C282Y Hemochromatosis Mutation by Real-Time Multiplex Allele-specific PCR without Fluorescent Probes Clin. Chem., October 1, 2000; 46(10): 1540 - 1547. [Abstract] [Full Text] [PDF]