存在生殖系嵌合现象时的基因连锁分析。
Genetic linkage analysis in the presence of germline mosaicism.
作者信息
Weissbrod Omer, Geiger Dan
机构信息
Technion - Israel Institute of Technology.
出版信息
Stat Appl Genet Mol Biol. 2011 Oct 4;10(1):/j/sagmb.2011.10.issue-1/1544-6115.1709/1544-6115.1709.xml. doi: 10.2202/1544-6115.1709.
Germline mosaicism is a genetic condition in which some germ cells of an individual contain a mutation. This condition violates the assumptions underlying classic genetic analysis and may lead to failure of such analysis. In this work we extend the statistical model used for genetic linkage analysis in order to incorporate germline mosaicism. We develop a likelihood ratio test for detecting whether a genetic trait has been introduced into a pedigree by germline mosaicism. We analyze the statistical properties of this test and evaluate its performance via computer simulations. We demonstrate that genetic linkage analysis has high power to identify linkage in the presence of germline mosaicism when our extended model is used. We further use this extended model to provide solid statistical evidence that the MDN syndrome studied by Genzer-Nir et al. has been introduced by germline mosaicism.
生殖系嵌合体是一种遗传状况，其中个体的一些生殖细胞含有突变。这种状况违反了经典遗传分析所依据的假设，并可能导致此类分析失败。在这项工作中，我们扩展了用于遗传连锁分析的统计模型，以纳入生殖系嵌合体。我们开发了一种似然比检验，用于检测遗传性状是否通过生殖系嵌合体引入家系。我们分析了该检验的统计特性，并通过计算机模拟评估其性能。我们证明，当使用我们扩展的模型时，遗传连锁分析在存在生殖系嵌合体的情况下具有很高的识别连锁的能力。我们进一步使用这个扩展模型提供确凿的统计证据，证明Genzer-Nir等人研究的MDN综合征是由生殖系嵌合体引入的。
Zotero 插件