HFE基因的IVS2+4T>C变异是剪接突变还是多态性？西班牙人群研究。 - Suppr

Is the IVS2+4T>C variant of the HFE gene a splicing mutation or a polymorphism? A study in the Spanish population.

作者信息

de Lucas Arantza Pacho, Fulgencio Maria Guzman, Robles Jorge Muñoz, Sierra Esther Mancebo, del Rey Cerros Manuel J, Perez Pablo Morales

出版信息

Genet Med. 2005 Mar;7(3):212-3. doi: 10.1097/01.gim.0000157125.89581.09.

DOI:10.1097/01.gim.0000157125.89581.09

PMID:15775762

Abstract

摘要

相似文献

Is the IVS2+4T>C variant of the HFE gene a splicing mutation or a polymorphism? A study in the Spanish population.HFE基因的IVS2+4T>C变异是剪接突变还是多态性？西班牙人群研究。

Genet Med. 2005 Mar;7(3):212-3. doi: 10.1097/01.gim.0000157125.89581.09.

Haplotype analysis of the H63D, IVS2+4t/c, and C282Y polymorphisms of the HFE gene reveals rare events of intragenic recombination.HFE基因的H63D、IVS2+4t/c和C282Y多态性的单倍型分析揭示了基因内重组的罕见事件。

Eur J Haematol. 2008 Apr;80(4):341-5. doi: 10.1111/j.1600-0609.2007.01025.x. Epub 2007 Dec 21.

Prevalence of C282Y, H63D and S65C mutations of the hemochromatosis (HFE) gene in a population from southeastern Spain (Murcia Region).西班牙东南部（穆尔西亚地区）人群中铁代谢紊乱（HFE）基因C282Y、H63D和S65C突变的患病率。

Clin Genet. 2007 Jan;71(1):97-8. doi: 10.1111/j.1399-0004.2006.00730.x.

Prevalence of HFE (hemochromatosis) gene mutations C282Y and H63D in a Romanian population.罗马尼亚人群中HFE（血色素沉着症）基因突变C282Y和H63D的患病率。

Blood Cells Mol Dis. 2009 Jan-Feb;42(1):14-5. doi: 10.1016/j.bcmd.2008.08.004. Epub 2008 Oct 7.

Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results. The European Haemochromatosis Consortium.

Nat Genet. 1999 Nov;23(3):271. doi: 10.1038/15452.

Genotype-phenotype correlation in a Spanish population homozygous for the H63D mutation of the HFE gene.

Ann Hematol. 2006 May;85(5):340-2. doi: 10.1007/s00277-006-0092-6. Epub 2006 Mar 8.

[Analysis of H63D mutation in hemochromatosis (HFE) gene in populations of central Eurasia].[欧亚大陆中部人群血色素沉着症（HFE）基因H63D突变分析]

Genetika. 2013 Feb;49(2):269-78. doi: 10.7868/s0016675812120041.

Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis.主要组织相容性复合体I类在铁过载中的关联：HFE H63D突变、HLA - A29与非典型遗传性血色素沉着症之间新联系的证据

Immunogenetics. 1998 Apr;47(5):404-10. doi: 10.1007/s002510050376.

Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results.HFE基因第4内含子的多态性不影响血色素沉着症突变检测结果。

Nat Genet. 1999 Nov;23(3):272. doi: 10.1038/15723.

Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results.

Nat Genet. 1999 Nov;23(3):271-2. doi: 10.1038/15722.

引用本文的文献

Comprehensive analysis of gene in hereditary hemochromatosis and in diseases associated with acquired iron overload.遗传性血色素沉着症及与获得性铁过载相关疾病中基因的综合分析。

World J Hepatol. 2019 Feb 27;11(2):186-198. doi: 10.4254/wjh.v11.i2.186.

Diagnosis and treatment of a 16-year-old Chinese patient with concurrent hereditary hemochromatosis and Gilbert's syndrome.诊断和治疗一名 16 岁中国患者的遗传性血色素沉着症和吉尔伯特综合征合并症。

Eur J Med Res. 2014 Sep 28;19(1):51. doi: 10.1186/s40001-014-0051-y.

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Is the IVS2+4T>C variant of the HFE gene a splicing mutation or a polymorphism? A study in the Spanish population.

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