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数量性状亲本来源效应的估计与检验。

Estimation and testing of parent-of-origin effects for quantitative traits.

作者信息

Whittaker John C, Gharani Neda, Hindmarsh Peter, McCarthy Mark I

机构信息

Department of Epidemiology and Public Health, Faculty of Medicine, University College London, London, United Kingdom.

出版信息

Am J Hum Genet. 2003 Apr;72(4):1035-9. doi: 10.1086/374382. Epub 2003 Mar 17.

DOI:10.1086/374382
PMID:12644965
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1180334/
Abstract

Recent progress in developing family-based association methods has extended their use to the analysis of quantitative traits in the offspring and to the estimation, for dichotomous traits, of the relative contribution of genetic and environmental mechanisms for parent-of-origin effects. However, many traits of interest are not naturally measured on a binary scale yet are suspected or known to be influenced by imprinted genes, and there is consequent interest in seeking evidence for parent-of-origin effects at these loci. Here we show how simple linear models can be used to estimate these parent-of-origin effects for a broad class of phenotypes; in particular, normally distributed quantitative traits are easily dealt with.

摘要

基于家系的关联方法在近期取得的进展,已将其应用范围扩展到对后代数量性状的分析,以及对二分类性状中遗传和环境机制对亲本来源效应的相对贡献的估计。然而,许多感兴趣的性状并非自然地以二元尺度进行测量,但怀疑或已知受印记基因影响,因此人们有兴趣在这些基因座上寻找亲本来源效应的证据。在这里,我们展示了如何使用简单线性模型来估计一大类表型的这些亲本来源效应;特别是,正态分布的数量性状很容易处理。

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Analysis of parent-offspring trios provides evidence for linkage and association between the insulin gene and type 2 diabetes mediated exclusively through paternally transmitted class III variable number tandem repeat alleles.对亲代-子代三联体的分析为胰岛素基因与2型糖尿病之间的连锁和关联提供了证据,这种连锁和关联仅通过父系传递的III类可变数目串联重复等位基因介导。
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