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Figure 27 | Orphanet Journal of Rare Diseases

Figure 27

From: Fabry disease

Figure 27

Sequencing of PCR products obtained from amplification of DNA directly eluted from a 3-mm punch of dried blood spot (DBS) on filter paper: a 60-year-old man with left ventricular hypertrophy of unknown origin was enrolled in a screening protocol for FD. Markedly decreased α-galactosidase activity was found on DBS. Using a second DBS, the patient was subsequently shown to carry a T to C transition in exon 2 at position 337 in the cDNA sequence of the GLA gene (c.337T > C). This nucleotide substitution alters the codon (T TT) for phenylalanine to the codon (C TT) for leucine at position 113 of the α-galactosidase A protein (p.Phe113Leu). Pr Dominique GERMAIN, University of Versailles - St Quentin en Yvelines (UVSQ), Versailles, France

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