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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.

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。

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