Ferrochelatase gene polymorphism analysis for accurate genetic counselling in erythropoietic protoporphyria.
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.
Morris
S D
SD
St John's Institute of Dermatology, St Thomas' Hospital, Lambeth Palace Road, London SE1 7EH, U.K. drsm@dircon.co.uk
Mason
N G
NG
Elder
G H
GH
Hawk
J L M
JL
Sarkany
R P E
RP
D000328:Adult; D000483:Alleles; D005294:Ferrochelatase / Q000235:genetics*; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D017121:Porphyria, Hepatoerythropoietic / Q000235:genetics*
D005294:Ferrochelatase