利用DNA标记鉴定等位基因和复杂单倍型的有效策略
An efficient strategy to characterize alleles and complex haplotypes using DNA-markers
摘要：
我们考虑的问题是，当没有关于该区域的直接信息但邻近DNA标记的值在手时，检测和估计感兴趣的性状与小基因组区域（例如基因或基因复合体）中的等位基因或单倍型之间的关联强度。我们认为，基因组区域的不可观察的单倍型的影响可以而且应该由代表不相交的标记等位基因组的因素来表示。一个基于假设的系统发育树的理论论证支持这一一般主张。所描述的技术允许鉴定和推断基因组区域中与性状相关的可检测单倍型的数目。所提出的方法使用一个详尽的组合搜索加上最大化的似然函数惩罚的参数的数量的版本。对于中等数量的标记等位基因，该程序可以容易地用标准统计方法实施。
英文摘要：
We consider the problem of detecting and estimating the strength of association between a trait of interest and alleles or haplotypes in a small genomic region (e.g. a gene or a gene complex), when no direct information on that region is available but the values of neighbouring DNA-markers are at hand. We argue that the effects of the non-observable haplotypes of the genomic regions can and should be represented by factors representing disjoint groups of marker-alleles. A theoretical argument based on a hypothetical phylogenetic tree supports this general claim. The techniques described allow to identify and to infer the number of detectable haplotypes in the genomic region that are associated with a trait. The methods proposed use an exhaustive combinatorial search coupled with the maximization of a version of the likelihood function penalized for the number of parameters. This procedure can easily be implemented with standard statistical methods for a moderate number of marker-alleles.
机构、总结、中文摘要均由AI分析而来，可能存在错误，请以论文正文为准。
