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Polymorphism in a ferritin H gene from chromosome 6p

✍ Scribed by Elisabetta Zappone; Isabelle Dugast; Panos Papadopoulos; Kelly Theriault; Veronique David; Jean-Yves LeGall; Kim Summers; Lawrie Powell; Jim Drysdale

Publisher: Springer
Year: 1991
Tongue: English
Weight: 893 KB
Volume: 86
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00201541

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✦ Synopsis

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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