Summary
This paper addresses the question of whether abnormalities in ferritin expression in the iron storage disease hemochromatosis (HC) involve major deletions or alterations in regions containing the two ferritin H genes that lie near the disease locus on chromosome 6p. We present evidence from analyses of Southern blots that neither gene is deleted in hemochromatosis. We also describe a polymorphism in one of the genes that we have previously shown to be a processed pseudogene. This polymorphism does not correlate with the presence of HC. The PIC value for this polymorphism was calculated as 0.49.
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Zappone, E., Dugast, I., Papadopoulos, P. et al. Polymorphism in a ferritin H gene from chromosome 6p. Hum Genet 86, 557–561 (1991). https://doi.org/10.1007/BF00201541
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DOI: https://doi.org/10.1007/BF00201541