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Fig. 1 | BMC Medical Imaging

Fig. 1

From: Quantification of liver iron overload disease with laser ablation inductively coupled plasma mass spectrometry

Fig. 1

Molecular diagnosis of HFE gene mutations. a Historically the first molecular tests for detections HFE gene mutations were based on RFLP analysis. In a typical setting, individual parts of the HFE gene locus were amplified by PCR. For detection of the C282Y mutation, the amplified products were then digested with SnaBI (TAC↓GTA) or RsaI (GT↓AC) and the resulting fragments were resolved by agarose gel electrophoresis. Heterozygote or homozygote carriers of the HFE C282Y are distinguished by their restriction fragment pattern following protocols described elsewhere [13]. b Similarly, the H63D mutation can be identified by the presence of a second BclI (T↓GATCA) restriction site that is not present in the amplicon of individuals carrying the wild type variants. c Sequence analysis of the C282Y and the H63D/S65C variants. d, e LightCycler analysis of different C282Y and H63D/S65C control probes and patient samples (P1, P2) using melting curve profiling using established protocols [10,11,12]. Details about HFE LightCycler analytics are given in Materials and Methods section

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