Ostasiewicz L T, Huang J L, Wang X, Piomelli S, Poh-Fitzpatrick M B
Department of Dermatology, New York Medical College, Valhalla, USA.
Photodermatol Photoimmunol Photomed. 1995 Feb;11(1):18-21. doi: 10.1111/j.1600-0781.1995.tb00132.x.
Inherited deficiency of ferrochelatase results in erythropoietic protoporphyria (EPP). Genetic heterogeneity at the locus for human ferrochelatase was investigated. Analysis of genomic DNA of patients with EPP and of control subjects by restriction endonuclease techniques using ten different enzymes detected polymorphisms only at sites recognized by EcoRI, HincII, PstI and TaqI. None of these polymorphisms alone was specific for expression of the disease since each was observed in control subjects as well. Three of these polymorphisms (at EcoRI, HincII and PstI sites) were always associated, indicating linkage. These and other studies demonstrate that the ferrochelatase gene is markedly heterogeneous. It is not yet clear whether some of the mutations associated with these polymorphisms contribute to expression of EPP.
亚铁螯合酶的遗传性缺乏会导致红细胞生成性原卟啉症（EPP）。对人类亚铁螯合酶基因座的遗传异质性进行了研究。采用十种不同的酶，通过限制性内切酶技术分析EPP患者和对照受试者的基因组DNA，结果仅在EcoRI、HincII、PstI和TaqI识别的位点检测到多态性。这些多态性单独存在时均非该疾病表达所特有的，因为在对照受试者中也观察到了每种多态性。其中三种多态性（在EcoRI、HincII和PstI位点）总是相关联，表明存在连锁关系。这些研究及其他研究表明，亚铁螯合酶基因具有明显的异质性。目前尚不清楚与这些多态性相关的一些突变是否会导致EPP的表达。
