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The low expression allele (IVS3-48C) of the ferrochelatase gene leads to low enzyme activity associated with erythropoietic protoporphyria.

作者信息

Tahara Tsuyoshi, Yamamoto Masayoshi, Akagi Reiko, Harigae Hideo, Taketani Shigeru

出版信息

Int J Hematol. 2010 Dec;92(5):769-71. doi: 10.1007/s12185-010-0725-3. Epub 2010 Dec 4.

DOI:10.1007/s12185-010-0725-3
PMID:21132468
Abstract
摘要

相似文献

1
The low expression allele (IVS3-48C) of the ferrochelatase gene leads to low enzyme activity associated with erythropoietic protoporphyria.
Int J Hematol. 2010 Dec;92(5):769-71. doi: 10.1007/s12185-010-0725-3. Epub 2010 Dec 4.
2
A Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease.捷克一个患有红细胞生成性原卟啉症家庭中FECH基因的新型突变以及对导致该疾病的IVS3-48C变异的群体研究。
Folia Biol (Praha). 2015;61(6):227-32. doi: 10.14712/fb2015061060227.
3
The molecular genetics of erythropoietic protoporphyria.红细胞生成性原卟啉症的分子遗传学
Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):118-26.
4
Case of late-onset erythropoietic protoporphyria with myelodysplastic syndrome who has homozygous IVS3-48C polymorphism in the ferrochelatase gene.伴有骨髓增生异常综合征的迟发性红细胞生成性原卟啉症病例，其 ferrochelatase 基因存在纯合子 IVS3-48C 多态性。
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Genetic analysis of the ferrochelatase gene in eight Japanese patients from seven families with erythropoietic protoporphyria.
J Dermatol. 2006 Sep;33(9):603-8. doi: 10.1111/j.1346-8138.2006.00140.x.
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Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.一种常见单核苷酸多态性对红细胞生成性原卟啉症遗传易感性的贡献。
Am J Hum Genet. 2006 Jan;78(1):2-14. doi: 10.1086/498620. Epub 2005 Nov 15.
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Ferrochelatase gene mutation in Singapore and a novel frame-shift mutation in an Asian boy with erythropoietic protoporphyria.新加坡的亚铁螯合酶基因突变及一名患红细胞生成性原卟啉症亚洲男孩中的新型移码突变。
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本文引用的文献

1
The molecular genetics of erythropoietic protoporphyria.红细胞生成性原卟啉症的分子遗传学
Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):118-26.
2
Novel ferrochelatase mutations in Japanese patients with erythropoietic protoporphyria: high frequency of the splice site modulator IVS3-48C polymorphism in the Japanese population.
J Invest Dermatol. 2006 Dec;126(12):2717-9. doi: 10.1038/sj.jid.5700456. Epub 2006 Jun 22.
3
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.一种常见单核苷酸多态性对红细胞生成性原卟啉症遗传易感性的贡献。
Am J Hum Genet. 2006 Jan;78(1):2-14. doi: 10.1086/498620. Epub 2005 Nov 15.
4
A "null allele" mutation is responsible for erythropoietic protoporphyria in an Israeli patient who underwent liver transplantation: relationships among biochemical, clinical, and genetic parameters.
Blood Cells Mol Dis. 2003 May-Jun;30(3):298-301. doi: 10.1016/s1079-9796(03)00040-8.
5
The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH.显性红细胞生成性原卟啉症的外显率受野生型FECH表达的调节。
Nat Genet. 2002 Jan;30(1):27-8. doi: 10.1038/ng809. Epub 2001 Dec 20.
6
Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.红细胞生成性原卟啉症的遗传：一种表达水平低的常见野生型亚铁螯合酶等位基因变异导致临床表现。
Blood. 1999 Mar 15;93(6):2105-10.
7
Recessive inheritance of erythropoietic protoporphyria with liver failure.
Lancet. 1994 Jun 4;343(8910):1394-6. doi: 10.1016/s0140-6736(94)92525-9.
8
The ferrochelatase gene structure and molecular defects associated with erythropoietic protoporphyria.与红细胞生成性原卟啉症相关的亚铁螯合酶基因结构和分子缺陷。
J Bioenerg Biomembr. 1995 Apr;27(2):231-8. doi: 10.1007/BF02110038.
9
Structure of the human ferrochelatase gene. Exon/intron gene organization and location of the gene to chromosome 18.
Eur J Biochem. 1992 Apr 1;205(1):217-22. doi: 10.1111/j.1432-1033.1992.tb16771.x.