牛红细胞生成性卟啉症的研究进展

Progress on Erythropoietic Protoporphyria

EPP是一种常染色体隐性遗传缺陷病。由亚铁螯合酶基因缺陷导致编码酶的活性降低引起,该酶活性不足时使动物体内血红素含量降低和卟啉及其前体过度增加。文章就牛、人EPP的主要症状、检测方法、亚铁螯合酶及其基因的研究进展进行较为详细的论述。

Erythropoietic protoporphyria （EPP） is an autosome recessive inheritance disease which caused by ferrochelatase（FC） gene defection. A decrease in FC activity leads to lower heme contents and excessive accumulation of protoporphyrin and procurosor. The typical characteristic and detection method of EPP, research progress on FC gene were reviewed in the article.