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意大利的特发性血色素沉着症与HLA抗原:A3 Bw35 HLA单倍型是否为意大利东北部地区特发性血色素沉着症基因的一个标志物?

Idiopathic haemochromatosis and HLA antigens in Italy: is A3 Bw35 HLA haplotype a marker for idiopathic haemochromatosis gene in north east regions?

作者信息

Piperno A, Fargion S, Panaiotopoulos N, Del Ninno E, Taddei M T, Fiorelli G

出版信息

J Clin Pathol. 1986 Feb;39(2):125-8. doi: 10.1136/jcp.39.2.125.

DOI:10.1136/jcp.39.2.125
PMID:3485115
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC499664/
Abstract

Thirty two unrelated Italian subjects with idiopathic haemochromatosis were studied. HLA-A3 was present in 26 of them (81% v 22% in controls; p less than 0.001) and HLA B7 in eight (28% v 9%; p less than 0.01). There was no important association between idiopathic haemochromatosis and HLA B14. Subdividing the patients on the basis of their regional origin a noticeably higher prevalence of HLA Bw35 in patients with idiopathic haemochromatosis from north eastern Italy was found than in those from Lombardy, or in the controls; there were no differences in the incidence of HLA A3 and B7 between patients with idiopathic haemochromatosis from different areas. A high prevalence of A3, Bw35, and A3, B7 haplotypes was found in our patients with idiopathic haemochromatosis. A3, Bw35 could be the haplotype most commonly linked to the idiopathic haemochromatosis gene in north eastern Italy.

摘要

对32名患有特发性血色素沉着症的不相关意大利受试者进行了研究。其中26人存在HLA - A3(对照组为22%,p小于0.001),8人存在HLA B7(对照组为9%,p小于0.01)。特发性血色素沉着症与HLA B14之间无重要关联。根据患者的地区来源进行细分后发现,来自意大利东北部的特发性血色素沉着症患者中HLA Bw35的患病率明显高于来自伦巴第地区的患者或对照组;不同地区的特发性血色素沉着症患者中HLA A3和B7的发生率无差异。在我们的特发性血色素沉着症患者中发现A3、Bw35以及A3、B7单倍型的患病率较高。在意大利东北部,A3、Bw35可能是最常与特发性血色素沉着症基因相关联的单倍型。

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本文引用的文献

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Hepatic pathology in relatives of patients with haemochromatosis.血色素沉着症患者亲属的肝脏病理学
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Idiopathic haemochromatosis in the Australian population: HLA linkage and recessivity.澳大利亚人群中的特发性血色素沉着症:HLA连锁与隐性遗传
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An HLA-All association with the hemochromatosis allele?HLA与血色素沉着病等位基因存在关联?
Clin Genet. 1983 Sep;24(3):171-6. doi: 10.1111/j.1399-0004.1983.tb02234.x.
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Gut. 1976 May;17(5):332-4. doi: 10.1136/gut.17.5.332.