The two authors equally contributed to the work.
Two novel mutations in the tmprss6 gene associated with iron-refractory iron-deficiency anaemia (irida) and partial expression in the heterozygous form
Article first published online: 5 JUL 2012
© 2012 Blackwell Publishing Ltd
British Journal of Haematology
Volume 158, Issue 5, pages 668–672, September 2012
How to Cite
Pellegrino, R. M., Coutinho, M., D'Ascola, D., Lopes, A. M., Palmieri, A., Carnuccio, F., Costa, M., Zecchina, G., Saglio, G., Costa, E., Barbot, J., Porto, G., Pinto, J. P. and Roetto, A. (2012), Two novel mutations in the tmprss6 gene associated with iron-refractory iron-deficiency anaemia (irida) and partial expression in the heterozygous form. British Journal of Haematology, 158: 668–672. doi: 10.1111/j.1365-2141.2012.09198.x
- Issue published online: 13 AUG 2012
- Article first published online: 5 JUL 2012
|bjh9198-sup-0001-FigS1.pdf||application/PDF||1760K||Fig 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.pdf||application/PDF||1051K||Fig 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.|
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