Computing Genetic Imprinting Expressed by Haplotypes
Computing Genetic Imprinting Expressed by Haplotypes
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DOI：
10.1007/978-1-60761-247-6_11
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发表时间：
2009-01-01
期刊：
影响因子：
--
通讯作者：
Wu, Rongling
中科院分区：
文献类型：
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作者：
Cheng, Yun;Berg, Arthur;Wu, Rongling
某些基因的母系和父系遗传等位基因的不同表达称为遗传印记。尽管遗传印记在性状形成、发育和进化中非常重要，但目前仍不清楚遗传印记如何在位于整个基因组的相互作用基因的复杂网络中发挥作用。遗传图谱已被证明是一种强大的工具，可以估计印记基因的分布和影响。虽然传统的作图模型试图基于分子标记构建的连锁图来检测印记数量性状位点，但我们开发了一种统计模型，用于估计由多个测序的单核苷酸多态性组成的单倍型的印记效应。新模型提供了母源和父源单倍型效应差异的表征，可用作候选基因或全基因组水平的遗传关联研究的工具。该模型用于绘制自然人群随机样本中体重指数的印记单倍型效应，从而在单倍型水平上检测到显着的印记效应。新模型将有助于在核苷酸水平上表征复杂数量性状的遗传结构。
Different expression of maternally and paternally inherited alleles at certain genes is called genetic imprinting. Despite its great importance in trait formation, development, and evolution, it remains unclear how genetic imprinting operates in a complex network of interactive genes located throughout the genome. Genetic mapping has proven to be a powerful tool that can estimate the distribution and effects of imprinted genes. While traditional mapping models attempt to detect imprinted quantitative trait loci based on a linkage map constructed from molecular markers, we have developed a statistical model for estimating the imprinting effects of haplotypes composed of multiple sequenced single-nucleotide polymorphisms. The new model provides a characterization of the difference in the effect of maternally and paternally derived haplotypes, which can be used as a tool for genetic association studies at the candidate gene or genome-wide level. The model was used to map imprinted haplotype effects on body mass index in a random sample from a natural human population, leading to the detection of significant imprinted effects at the haplotype level. The new model will be useful for characterizing the genetic architecture of complex quantitative traits at the nucleotide level.