bjh9198-sup-0001-FigS1.pdfapplication/PDF1760KFig S1. Electrophoretograms of the TMPRSS6 genomic sequences spanning the mutations found in Family 1 (a) and in Family 2 (b) patients. The DNA sequences of a wild type subject (WT) and of the probands (P) are shown. Mutations are indicated by asterisks.
bjh9198-sup-0002-FigS2.pdfapplication/PDF1051KFig S2. (a) RT-PCR melting curves of Family 1 father (I-1, upper panel) and proband (II-4, middle panel) TMPRSS6 transcripts. Abelson Tyrosine-kinase (ABL) cDNA amplification, used as calibrator, is shown in the bottom panel. The pink line represents the established threshold. (b) Effects of the c. 1869-21C>G mutation on TMPRSS6 mRNA. Upper panel: Alternative spliced cDNA created by the mutation electrophoresed on agarose gel. cDNAs including the mutated loci (1 and 2) or specific for the mutated sequence (3) were obtained and amplified for the proband (P), mother (M) and father (F) and electrophoresed. Two bands, with molecular weights in agreement with the predicted WT (404 and 158 bp, respectively for amplicons 1 and 2) or mutant (424 and 178 bp, respectively for amplicons 1 and 2) sizes were observed for proband and mother, whereas only the smaller band was observed for the father. A band corresponding to the mutated sequence (140 bp) was only observed in the proband and mother. L: 1Kb DNA Plus Ladder. Bottom panel: Map of the expected amplicons for WT and mutated regions.
bjh9198-sup-0003-FigS1-S2legend.docWord document25K 

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