Morris S D, Mason N G, Elder G H, Hawk J L M, Sarkany R P E
St John's Institute of Dermatology, St Thomas' Hospital, Lambeth Palace Road, London SE1 7EH, U.K.
Br J Dermatol. 2002 Sep;147(3):572-4. doi: 10.1046/j.1365-2133.2002.04876.x.
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.
最近有研究表明，临床上大多数明显的红细胞生成性原卟啉症（EPP）病例是由突变的亚铁螯合酶基因和常见的低表达正常变异等位基因共同遗传所致。与这种低表达等位基因相关的两个多态性变异序列的鉴定，现在能够为一方患有EPP的夫妇提供更好的预测性咨询。我们描述了一位患者及其配偶，我们利用这种基因分析准确估计了他们未来的后代患EPP的可能性。
