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Ferrochelatase gene polymorphism analysis for accurate genetic counselling in erythropoietic protoporphyria

✍ Scribed by S.D. Morris; N.G. Mason; G.H. Elder; J.L.M. Hawk; R.P.E. Sarkany

Book ID: 104460228
Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 91 KB
Volume: 147
Category: Article
ISSN: 0007-0963
DOI: 10.1046/j.1365-2133.2002.04876.x

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✦ Synopsis

It has recently been shown that most cases of clinically overt erythropoietic protoporphyria (EPP) result from coinheritance of a mutated ferrochelatase gene and a commonly occurring low-expression normal variant allele. The identification of two polymorphic variant sequences associated with this low-expression allele now enables improved predictive counselling for couples where one partner has EPP. We describe a patient and his spouse in whom we have used such genetic analysis to provide an accurate estimate of the chance that their future offspring may suffer from EPP.

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