de Verneuil H, Bourgeois F, de Rooij F, Siersema P D, Wilson J H, Grandchamp B, Nordmann Y
Laboratoire de Génétique Moléculaire, Faculté Xavier Bichat, Paris, France.
Hum Genet. 1992 Jul;89(5):548-52. doi: 10.1007/BF00219182.
A deficiency in the activity of uroporphyrinogen decarboxylase (UROD), the fifth enzyme of the haem biosynthetic pathway, is found in familial porphyria cutanea tarda (F-PCT) and hepatoerythropoietic porphyria (HEP). A new mutation (R292G) and a deletion have been found in a pedigree with two HEP patients (two sisters). The R292G mutation was not detected in 13 unrelated affected patients with F-PCT, so it appears to be uncommon. The possibility that the arginine 292 may participate at the active site of the enzyme is discussed. A summary of the 7 mutations/deletions found in the UROD gene with their frequency is presented.
家族性迟发性皮肤卟啉症（F-PCT）和肝红细胞生成性卟啉症（HEP）中，可发现血红素生物合成途径的第五种酶——尿卟啉原脱羧酶（UROD）的活性存在缺陷。在一个有两名HEP患者（两姐妹）的家系中发现了一种新的突变（R292G）和一处缺失。在13名无亲缘关系的F-PCT患者中未检测到R292G突变，因此该突变似乎并不常见。本文讨论了精氨酸292可能参与该酶活性位点的可能性。还列出了在UROD基因中发现的7种突变/缺失及其频率的总结。
