Screening for ferrochelatase mutations: molecular heterogeneity of erythropoietic protoporphyria.
Screening for ferrochelatase mutations: molecular heterogeneity of erythropoietic protoporphyria.
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筛选亚铁螯合酶突变：红细胞生成原卟啉症的分子异质性。
DOI：
10.1016/0925-4439(94)90077-9
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发表时间：
1994
期刊：
影响因子：
--
通讯作者：
Piomelli,S
中科院分区：
文献类型：
--
作者：
Wang,X;Poh-Fitzpatrick,M;Taketani,S;Chen,T;Piomelli,S
对19个无亲缘关系的红细胞生成性原卟啉症（EPP）家系的21例患者进行了6个铁螯合酶点突变的筛查。在另外两名无关的EPP患者中检测到我们先前描述的突变（内含子10供体位点-3处的A β t颠换，导致外显子10跳跃）：在这些患者中，也检测到缺失外显子10的cDNA。Nakahashi等人描述的突变导致外显子2跳跃（内含子1受体位点−23位的C → T转换），虽然在一些正常个体中也观察到，但在所有接受检测的EPP患者中都观察到，因此可能在EPP的发病中发挥一定作用。因此，似乎该突变不是外显子2跳跃的主要机制。没有检测到其他四个先前描述的突变。这些数据表明铁螯合酶基因座的异质性和EPP的遗传缺陷。
The DNA of 21 patients from 19 unrelated families with erythropoietic protoporphyria (EPP) were screened for the 6 ferrochelatase point mutations so far described. The mutation previously described by us (A ⪢ t transversion at position −3 of the donor site of intron 10, causing exon 10 skipping) was detected in two additional unrelated EPP patients: in these patients, cDNA lacking exon 10 was also detected. The mutation described by Nakahashi et al. as responsible for exon 2 skipping (C ⪢ T transition at position −23 of the acceptor site of intron 1), although also observed in some normal individuals, was invariably observed in all EPP patients tested and may thus play some role in the pathognesis of EPP. Thus, it does not appear that this mutation is the primary mechanism underlying exon 2 skipping. None of the other four previously described mutations were detected. These data demonstrate the heterogeneity of the ferrochelatase locus and of the genetic defect in EPP.
编码人亚铁螯合酶的 cDNA 的分子克隆和序列分析。
DOI：
10.1016/s0006-291x(05)80099-3
发表时间：
1990
影响因子：
3.1
作者：
Y. Nakahashi;S. Taketani;M. Okuda;Kyoichi Inoue;Rikio Tokunaga
通讯作者：
Rikio Tokunaga
人类亚铁螯合酶基因 (FECH) 和原卟啉症基因座分配至染色体 18q22。
影响因子：
4.4
作者：
D. Whitcombe;N. Carter;D. Albertson;Stuart Smith;D. Rhodes;T. Cox
通讯作者：
T. Cox
人红细胞生成性原卟啉症：亚铁螯合酶基因的两个点突变。
DOI：
--
发表时间：
1991
期刊：
Biochemical and Biophysical Research Communications - BBRC
影响因子：
--
作者：
J. Lamoril;S. Boulechfar;H. Verneuil;B. Grandchamp;Y. Nordmann;J. Deybach
通讯作者：
J. Deybach