• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

HLA作为瑞典血色素沉着症基因的一个标记。

HLA as a marker of the hemochromatosis gene in Sweden.

作者信息

Ritter B, Säfwenberg J, Olsson K S

出版信息

Hum Genet. 1984;68(1):62-6. doi: 10.1007/BF00293874.

DOI:10.1007/BF00293874
PMID:6500556
Abstract

The frequency of HLA-A3 and HLA-B14 antigens was found to be significantly (P = less than 0.0001) higher in a series of 50 unrelated and unselected Swedish patients with idiopathic hemochromatosis (IH) than in controls, being 66% and 32% for A3 and 22% and 2% for B14. The haplotype A3B14 was associated with the highest risk in this material (relative risk 23.4). One family with this haplotype was traced back to the end of the seventeenth century. The pattern of HLA antigens associated with IH in Sweden shows remarkable similarity to those reported from England and Brittany.

摘要

在一组50例未选择的无亲缘关系的瑞典特发性血色素沉着症(IH)患者中,发现HLA - A3和HLA - B14抗原的频率显著高于对照组(P < 0.0001),A3抗原频率分别为66%和32%,B14抗原频率分别为22%和2%。在该样本中,单倍型A3B14与最高风险相关(相对风险为23.4)。一个具有这种单倍型的家族可追溯到17世纪末。瑞典与IH相关的HLA抗原模式与英国和布列塔尼报道的模式显著相似。

相似文献

1
HLA as a marker of the hemochromatosis gene in Sweden.HLA作为瑞典血色素沉着症基因的一个标记。
Hum Genet. 1984;68(1):62-6. doi: 10.1007/BF00293874.
2
Was the C282Y mutation an Irish Gaelic mutation that the Vikings helped disseminate? HLA haplotype observations of hemochromatosis from the west coast of Sweden.C282Y 突变是否是维京人帮助传播的爱尔兰盖尔语突变?来自瑞典西海岸的血色病的 HLA 单倍型观察。
Eur J Haematol. 2011 Jan;86(1):75-82. doi: 10.1111/j.1600-0609.2010.01536.x. Epub 2010 Nov 30.
3
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.
4
An HLA study in 74 Danish haemochromatosis patients and in 21 of their families.
Clin Genet. 1992 Jan;41(1):6-11. doi: 10.1111/j.1399-0004.1992.tb03619.x.
5
HLA haplotype map of river valley populations with hemochromatosis traced through five centuries in Central Sweden.瑞典中部五个世纪以来患有血色素沉着症的河谷人群的HLA单倍型图谱。
Eur J Haematol. 2008 Jul;81(1):36-46. doi: 10.1111/j.1600-0609.2008.01078.x. Epub 2008 Mar 19.
6
HLA determinants in 70 Danish patients with idiopathic haemochromatosis.
Clin Genet. 1988 Apr;33(4):286-92. doi: 10.1111/j.1399-0004.1988.tb03450.x.
7
HLA determinants in idiopathic hemochromatosis.
Tissue Antigens. 1979 Jul;14(1):10-4. doi: 10.1111/j.1399-0039.1979.tb00815.x.
8
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
Hum Immunol. 1981 May;2(3):191-200. doi: 10.1016/0198-8859(81)90011-2.
9
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.
10
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.

引用本文的文献

1
HFE gene: Structure, function, mutations, and associated iron abnormalities.HFE基因:结构、功能、突变及相关铁代谢异常
Gene. 2015 Dec 15;574(2):179-92. doi: 10.1016/j.gene.2015.10.009. Epub 2015 Oct 9.
2
HLA haplotypes associated with hemochromatosis mutations in the Spanish population.与西班牙人群血色素沉着症突变相关的HLA单倍型
BMC Med Genet. 2004 Oct 21;5:25. doi: 10.1186/1471-2350-5-25.
3
HLA-A and -B alleles and haplotypes in hemochromatosis probands with HFE C282Y homozygosity in central Alabama.阿拉巴马州中部HFE C282Y纯合子血色素沉着症先证者中的HLA - A和 - B等位基因及单倍型

本文引用的文献

1
On estimating the relation between blood group and disease.关于评估血型与疾病之间的关系。
Ann Hum Genet. 1955 Jun;19(4):251-3. doi: 10.1111/j.1469-1809.1955.tb01348.x.
2
Homozygosity for hemochromatosis: clinical manifestations.血色素沉着症纯合子:临床表现
Ann Intern Med. 1980 Oct;93(4):519-25. doi: 10.7326/0003-4819-93-4-519.
3
Idiopathic hemochromatosis: a study of biochemical expression in 247 heterozygous members of 63 families: evidence for a single major HLA-linked gene.特发性血色素沉着症:对63个家族的247名杂合子成员的生化表现的研究:单一主要HLA连锁基因的证据
BMC Med Genet. 2002 Oct 7;3:9. doi: 10.1186/1471-2350-3-9.
4
Transferrin types and expression of hereditary hemochromatosis.遗传性血色素沉着症的转铁蛋白类型与表达
Hum Genet. 1994 Apr;93(4):483-4. doi: 10.1007/BF00201685.
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
Mapping the locus for hereditary hemochromatosis: localization between HLA-B and HLA-A.遗传性血色素沉着症基因座的定位:定位于HLA - B和HLA - A之间。
Am J Hum Genet. 1986 Jun;38(6):805-11.
7
Idiopathic haemochromatosis in north Portugal: association with haplotype A3B7.葡萄牙北部的特发性血色素沉着症:与单倍型A3B7的关联。
J Clin Pathol. 1989 Jun;42(6):667-8. doi: 10.1136/jcp.42.6.667-b.
8
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.
9
HLA antigens in Hungarian patients with idiopathic haemochromatosis.匈牙利特发性血色素沉着症患者的人类白细胞抗原(HLA)抗原
J Clin Pathol. 1991 Jan;44(1):79-81. doi: 10.1136/jcp.44.1.79.
Gastroenterology. 1980 Apr;78(4):703-8.
4
Hereditary hemochromatosis: contributions of genetic analyses.遗传性血色素沉着症:基因分析的贡献
Prog Hematol. 1981;12:43-71.
5
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
Hum Immunol. 1981 May;2(3):191-200. doi: 10.1016/0198-8859(81)90011-2.
6
Hereditary haemochromatosis.遗传性血色素沉着症
Clin Haematol. 1982 Jun;11(2):411-35.
7
The genetics of hemochromatosis.血色素沉着症的遗传学
Prog Med Genet. 1980;4:135-68.
8
Prevalence of iron overload in central Sweden.瑞典中部铁过载的患病率。
Acta Med Scand. 1983;213(2):145-50. doi: 10.1111/j.0954-6820.1983.tb03706.x.
9
[Primary hemochromatosis. Clinical picture, diagnosis and treatment].[原发性血色素沉着症。临床表现、诊断与治疗]
Ugeskr Laeger. 1983 Jan 3;145(1):16-8.
10
Screening for iron overload using transferrin saturation.
Acta Med Scand. 1984;215(2):105-12. doi: 10.1111/j.0954-6820.1984.tb04979.x.