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一些疾病的上位性双基因座模型。I. 患病同胞对中的相对风险和同源性分布

Some epistatic two-locus models of disease. I. Relative risks and identity-by-descent distributions in affected sib pairs.

作者信息

Hodge S E

出版信息

Am J Hum Genet. 1981 May;33(3):381-95.

Abstract

A two-locus disease model is presented in which a marker locus interacts epistatically with another unlinked trait to cause the disease. Such a model can lead to disease-marker associations and distortions in the sharing of marker types among affected family members. These effects are quantified. In the case of HLA-disease associations, this model is presented as an alternative to the "hitchhiking" theory of tight linkage leading to linkage disequilibrium.

摘要

提出了一种双基因座疾病模型,其中一个标记基因座与另一个不连锁的性状发生上位性相互作用从而导致疾病。这样的模型会导致疾病与标记之间的关联以及患病家庭成员中标记类型共享的扭曲。对这些效应进行了量化。在HLA与疾病关联的情况下,该模型被提出作为导致连锁不平衡的紧密连锁“搭便车”理论的替代方案。

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Ataxia-telangiectasia and xeroderma pigmentosum: no evidence of linkage to HLA.
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Ann Hum Genet. 1980 May;43(4):383-98. doi: 10.1111/j.1469-1809.1980.tb01572.x.
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Relatives of probands: models for preliminary genetic analysis.先证者的亲属:初步基因分析模型
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HL-A, immune-response genes, and disease.人类白细胞抗原、免疫反应基因与疾病
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