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HLA与血色素沉着病等位基因存在关联？

An HLA-All association with the hemochromatosis allele?

作者信息

Le Mignon L, Simon M, Fauchet R, Edan G, Le Reun M, Brissot P, Genetet B, Bourel M

出版信息

Clin Genet. 1983 Sep;24(3):171-6. doi: 10.1111/j.1399-0004.1983.tb02234.x.

DOI:10.1111/j.1399-0004.1983.tb02234.x
PMID:6578890
Abstract

Two hundred and seventy-four patients with hemochromatosis and 1005 controls were HLA-typed, and HLA haplotypes were determined for 163 patients and 123 controls. The increased frequency of antigen A3 and haplotypes A3, B7 and A3, B14 in patients with hemochromatosis was confirmed. After correction for the space taken up by A3, a significant increase in All was found. This increase could not be explained by cross reaction between A3 and All. All showed a phenotype association and a haplotype link with Bw35. The genetic significance of this increased All frequency is discussed.

摘要

对274例血色素沉着症患者和1005例对照进行了HLA分型，并对163例患者和123例对照确定了HLA单倍型。血色素沉着症患者中抗原A3以及单倍型A3、B7和A3、B14的频率增加得到了证实。在对A3所占空间进行校正后，发现A11显著增加。这种增加不能用A3和A11之间的交叉反应来解释。A11显示出与Bw35的表型关联和单倍型联系。讨论了这种A11频率增加的遗传学意义。

相似文献

1
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.
2
A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association.一项针对609个标记血色素沉着症基因的HLA单倍型的研究：（1）该基因在HLA - A位点附近的定位以及定义杂合子群体所需的特征，（2）关于血色素沉着症与HLA关联潜在原因的假说。
Am J Hum Genet. 1987 Aug;41(2):89-105.
3
Idiopathic haemochromatosis and HLA antigens in Italy: is A3 Bw35 HLA haplotype a marker for idiopathic haemochromatosis gene in north east regions?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？
J Clin Pathol. 1986 Feb;39(2):125-8. doi: 10.1136/jcp.39.2.125.
4
Is all genetic (hereditary) hemochromatosis HLA-associated.所有遗传性血色素沉着症都与人类白细胞抗原（HLA）相关吗？
Ann N Y Acad Sci. 1988;526:23-33. doi: 10.1111/j.1749-6632.1988.tb55489.x.
5
HLA determinants in an Australian population of hemochromatosis patients and their families.澳大利亚血色素沉着症患者及其家族群体中的人类白细胞抗原决定簇
Am J Hum Genet. 1989 Jul;45(1):41-8.
6
[Immunogenetic markers of the HLA system in idiopathic hemochromatosis. Contribution and value].
Presse Med. 1984 May 19;13(21):1307-9.
7
Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium?H63D突变与HLA - A29等位基因的共选择：连锁不平衡的一种新范式？
Immunogenetics. 2002 Mar;53(12):1002-8. doi: 10.1007/s00251-001-0414-8. Epub 2002 Feb 6.
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Disease risk estimates from marker association data. Application to individuals at risk for hemochromatosis.基于标记物关联数据的疾病风险评估。在血色素沉着症高危个体中的应用。
Clin Genet. 1985 Feb;27(2):127-33. doi: 10.1111/j.1399-0004.1985.tb00199.x.
9
HLA-A3-B14 and the origin of the haemochromatosis C282Y mutation: founder effects and recombination events during 12 generations in a Scandinavian family with major iron overload.HLA-A3-B14 和血色病 C282Y 突变的起源：一个斯堪的纳维亚铁过载家族 12 代中的奠基人效应和重组事件。
Eur J Haematol. 2010 Feb 1;84(2):145-53. doi: 10.1111/j.1600-0609.2009.01376.x. Epub 2009 Nov 12.
10
HLA determinants in idiopathic hemochromatosis.
Tissue Antigens. 1979 Jul;14(1):10-4. doi: 10.1111/j.1399-0039.1979.tb00815.x.

引用本文的文献

1
Genetic analysis of idiopathic hemochromatosis using both qualitative (disease status) and quantitative (serum iron) information.利用定性（疾病状态）和定量（血清铁）信息对特发性血色素沉着症进行基因分析。
Am J Hum Genet. 1985 Jul;37(4):700-18.
2
Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE).位于HLA - A基因400 kb范围内的匿名标记基因座产生与血色素沉着症基因（HFE）处于连锁不平衡状态的单倍型。
Am J Hum Genet. 1994 Feb;54(2):252-63.
3
Non-HLA-linked hemochromatosis in a Chinese woman.
一名中国女性的非HLA连锁遗传性血色素沉着症
Dig Dis Sci. 1995 Jul;40(7):1589-91. doi: 10.1007/BF02285215.
4
Idiopathic haemochromatosis and HLA antigens in Italy: is A3 Bw35 HLA haplotype a marker for idiopathic haemochromatosis gene in north east regions?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？
J Clin Pathol. 1986 Feb;39(2):125-8. doi: 10.1136/jcp.39.2.125.
5
A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association.一项针对609个标记血色素沉着症基因的HLA单倍型的研究：（1）该基因在HLA - A位点附近的定位以及定义杂合子群体所需的特征，（2）关于血色素沉着症与HLA关联潜在原因的假说。
Am J Hum Genet. 1987 Aug;41(2):89-105.
6
DNA polymorphism related to the idiopathic hemochromatosis gene: evidence in a recombinant family.与特发性血色素沉着症基因相关的DNA多态性：一个重组家族的证据
Hum Genet. 1986 Oct;74(2):113-20. doi: 10.1007/BF00282073.
7
Combined segregation and linkage analysis of genetic hemochromatosis using affection status, serum iron, and HLA.利用患病状态、血清铁和 HLA 对遗传性血色素沉着症进行联合分离分析和连锁分析。
Am J Hum Genet. 1990 Sep;47(3):542-50.