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基于先证者/同胞对分析的疾病相关性状连锁分析的无基因模型方法。

A gene-model-free method for linkage analysis of a disease-related-trait based on analysis of proband/sibling pairs.

机构信息

Applied Mathematics and Statistics Department, Stony Brook University, Stony Brook, New York 11794, USA.

出版信息

BMC Genet. 2005 Dec 30;6 Suppl 1(Suppl 1):S47. doi: 10.1186/1471-2156-6-S1-S47.

DOI:10.1186/1471-2156-6-S1-S47
PMID:16451658
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1866737/
Abstract

In this paper we investigate the power of finding linkage to a disease locus through analysis of the disease-related traits. We propose two family-based gene-model-free linkage statistics. Both involve considering the distribution of the number of alleles identical by descent with the proband and comparing siblings with the disease-related trait to those without the disease-related-trait. The objective is to find linkages to disease-related traits that are pleiotropic for both the disease and the disease-related-traits. The power of these statistics is investigated for Kofendrerd Personality Disorder-related traits a (Joining/founding cults) and trait b (Fear/discomfort with strangers) of the simulated data. The answers were known prior to the execution of the reported analyses. We find that both tests have very high power when applied to the samples created by combining the data of the three cities for which we have nuclear family data.

摘要

在本文中,我们通过分析与疾病相关的特征来研究发现与疾病基因座连锁的能力。我们提出了两种基于家系的、无需基因模型的连锁统计方法。这两种方法都涉及考虑与先证者相同的遗传等位基因的数量分布,并将有疾病相关特征的兄弟姐妹与没有疾病相关特征的兄弟姐妹进行比较。目的是发现与疾病相关特征的连锁,这些特征对疾病和疾病相关特征都是多效的。对于模拟数据中的科芬德人格障碍相关特征 a(加入/创立邪教)和特征 b(对陌生人的恐惧/不适),我们研究了这些统计方法的功效。在执行报告的分析之前,答案是已知的。我们发现,当应用于我们具有核家庭数据的三个城市的数据组合创建的样本时,这两种检验都具有很高的功效。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5ac/1866737/8cb107601117/1471-2156-6-S1-S47-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5ac/1866737/c4c76a32e7e3/1471-2156-6-S1-S47-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5ac/1866737/8cb107601117/1471-2156-6-S1-S47-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5ac/1866737/c4c76a32e7e3/1471-2156-6-S1-S47-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5ac/1866737/8cb107601117/1471-2156-6-S1-S47-2.jpg

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引用本文的文献

1
The power of linkage analysis of a disease-related endophenotype using asymmetrically ascertained sib pairs.利用非对称确定的同胞对进行疾病相关内表型连锁分析的效能
Comput Stat Data Anal. 2009 Mar 15;53(5):1829-1842. doi: 10.1016/j.csda.2008.08.030.

本文引用的文献

1
Quantitative risk factors as indices of alcoholism susceptibility.
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2
Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families.在多个自闭症家庭中,7号染色体长臂上存在语言数量性状基因座的证据。
Am J Hum Genet. 2002 Jan;70(1):60-71. doi: 10.1086/338241. Epub 2001 Dec 6.
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Quantitative characterization of eye tracking dysfunction in schizophrenia.精神分裂症患者眼动追踪功能障碍的定量特征分析
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Eye tracking dysfunction is a putative phenotypic susceptibility marker of schizophrenia and maps to a locus on chromosome 6p in families with multiple occurrence of the disease.眼动跟踪功能障碍是精神分裂症的一种假定表型易感性标志物,在该病多发的家族中定位到6号染色体短臂上的一个基因座。
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