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Allele multiplicity in simple Mendelian disorders.单基因孟德尔疾病中的等位基因多样性。
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Nucleotide polymorphism at the alcohol dehydrogenase locus of Drosophila melanogaster.黑腹果蝇乙醇脱氢酶基因座的核苷酸多态性
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A test of neutral molecular evolution based on nucleotide data.基于核苷酸数据的中性分子进化测试。
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Molecular population genetics of the alcohol dehydrogenase gene region of Drosophila melanogaster.黑腹果蝇乙醇脱氢酶基因区域的分子群体遗传学
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Evidence for increased recombination near the human insulin gene: implication for disease association studies.人类胰岛素基因附近重组增加的证据:对疾病关联研究的启示。
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Phylogenetic analysis of polymorphic DNA sequences at the Adh locus in Drosophila melanogaster and its sibling species.黑腹果蝇及其姐妹物种中乙醇脱氢酶(Adh)基因座多态性DNA序列的系统发育分析。
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具有选择作用的模型中的溯祖过程。

The coalescent process in models with selection.

作者信息

Kaplan N L, Darden T, Hudson R R

机构信息

National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina 27709.

出版信息

Genetics. 1988 Nov;120(3):819-29. doi: 10.1093/genetics/120.3.819.

DOI:10.1093/genetics/120.3.819
PMID:3066685
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1203559/
Abstract

Statistical properties of the process describing the genealogical history of a random sample of genes are obtained for a class of population genetics models with selection. For models with selection, in contrast to models without selection, the distribution of this process, the coalescent process, depends on the distribution of the frequencies of alleles in the ancestral generations. If the ancestral frequency process can be approximated by a diffusion, then the mean and the variance of the number of segregating sites due to selectively neutral mutations in random samples can be numerically calculated. The calculations are greatly simplified if the frequencies of the alleles are tightly regulated. If the mutation rates between alleles maintained by balancing selection are low, then the number of selectively neutral segregating sites in a random sample of genes is expected to substantially exceed the number predicted under a neutral model.

摘要

针对一类具有选择作用的群体遗传学模型,获得了描述基因随机样本系谱历史过程的统计特性。与无选择作用的模型相比,对于有选择作用的模型,这个过程(即合并过程)的分布取决于祖先世代中等位基因频率的分布。如果祖先频率过程可以用扩散过程来近似,那么随机样本中由于选择性中性突变导致的分离位点数量的均值和方差就可以通过数值计算得到。如果等位基因频率受到严格调控,计算将大大简化。如果由平衡选择维持的等位基因之间的突变率较低,那么在基因随机样本中,选择性中性分离位点的数量预计将大大超过中性模型预测的数量。