Sarkany R P, Whitcombe D M, Cox T M
Department of Medicine, University of Cambridge, Addenbrooke's Hospital, U.K.
J Invest Dermatol. 1994 Apr;102(4):481-4. doi: 10.1111/1523-1747.ep12373073.
Erythropoietic protoporphyria is an inherited disorder caused by deficient activity of the enzyme ferrochelatase. We have examined the ferrochelatase gene in an 11-year-old female with protoporphyria and have found that she is heterozygous for a mutation at a conserved residue in the exon 3 donor splice site consensus sequence (T(+2)-->G). This is inherited from her father, who also has deficient ferrochelatase activity. As a consequence of the mutation, ferrochelatase transcripts are aberrantly spliced and give rise to mRNA molecules in which sequences corresponding to exon 3 are absent. This leads to the expression of a ferrochelatase protein lacking a central region of 40 amino acids.
红细胞生成性原卟啉症是一种由铁螯合酶活性缺乏引起的遗传性疾病。我们检测了一名患有原卟啉症的11岁女性的铁螯合酶基因，发现她在第3外显子供体剪接位点共有序列（T(+2)-->G）的一个保守残基处发生了突变，为杂合子。这是从她同样具有铁螯合酶活性缺乏的父亲那里遗传而来的。由于该突变，铁螯合酶转录本发生异常剪接，产生了缺少对应于第3外显子序列的mRNA分子。这导致了一种缺少40个氨基酸中心区域的铁螯合酶蛋白的表达。
