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扩展家系中数量性状基因座的基因组印记与连锁检测

Genomic imprinting and linkage test for quantitative-trait Loci in extended pedigrees.

作者信息

Shete Sanjay, Zhou Xiaojun, Amos Christopher I

机构信息

Department of Epidemiology, The University of Texas M. D. Anderson Cancer Center, Houston, TX, 77030, USA.

出版信息

Am J Hum Genet. 2003 Oct;73(4):933-8. doi: 10.1086/378592. Epub 2003 Sep 16.

DOI:10.1086/378592
PMID:13680523
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1180613/
Abstract

Genomic imprinting is a mechanism in which only one of the two copies of a gene is expressed. Some genes that affect development and behavior in mammals are known to be imprinted. Deregulation of imprinted genes has been found in a number of human diseases. Incorporating imprinting information into linkage analysis results in a more powerful test for linkage. Here, we propose an efficient method to test for linkage and imprinting of quantitative traits in extended pedigrees. We compared the results obtained by using the extended-pedigree-analysis approach proposed in this study with other existing approaches. We found that the proposed method is more powerful and uses extended-pedigree information most efficiently.

摘要

基因组印记是一种机制,其中基因的两个拷贝中只有一个被表达。已知一些影响哺乳动物发育和行为的基因会被印记。在许多人类疾病中都发现了印记基因的失调。将印记信息纳入连锁分析会产生更强大的连锁检验。在此,我们提出一种有效的方法来检验扩展家系中数量性状的连锁和印记。我们将本研究中提出的扩展家系分析方法与其他现有方法所获得的结果进行了比较。我们发现所提出的方法更强大,并且最有效地利用了扩展家系信息。

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本文引用的文献

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Effect of winsorization on power and type 1 error of variance components and related methods of QTL detection.缩尾处理对方差分量的检验功效及一类错误以及数量性状基因座检测相关方法的影响。
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Effect of Box-Cox transformation on power of Haseman-Elston and maximum-likelihood variance components tests to detect quantitative trait Loci.Box-Cox变换对Haseman-Elston检验及最大似然方差成分检验检测数量性状基因座效能的影响。
Hum Hered. 2003;55(2-3):108-16. doi: 10.1159/000072315.
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Imprinting and disease.印记与疾病。
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Am J Hum Genet. 2003 Jan;72(1):125-31. doi: 10.1086/345646. Epub 2002 Dec 9.
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Nat Rev Genet. 2002 Sep;3(9):662-73. doi: 10.1038/nrg887.
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Testing for genetic linkage in families by a variance-components approach in the presence of genomic imprinting.在存在基因组印记的情况下,采用方差成分法对家族中的基因连锁进行检测。
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Assessment of parent-of-origin effects in linkage analysis of quantitative traits.数量性状连锁分析中亲本来源效应的评估。
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Genomic imprinting: parental influence on the genome.基因组印记:亲本对基因组的影响。
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The imprinted gene and parent-of-origin effect database.印记基因与亲本来源效应数据库。
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Mechanisms of genomic imprinting.基因组印记的机制。
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