STOCHASTIC PROCESSES IN POPULATION GENETICS

这项建议的目的可分为三个主要方面： 继续进行与变速器/ 不平衡检验（TDT），（ii）将TDT概念扩展到新形式 数据，特别是来自基因组错配技术的数据 扫描。 (GMS)及（iii）完成确定抽样工作 和基因组重建。(i)改进的传递/不平衡 (TDT)已被证明是一个主要的工具，在寻求之间的联系， 疾病和标记基因座以及疾病和标记之间的关联 等位基因 最近，该测试的扩展，称为S-TDT（sib-TDT）， 已经获得，这允许测试时，有关的信息， 受影响儿童的父母的标记位点基因型不可用。 一种将TDT和S-TDT数据合并成一个整体的方法 测试也发现。这项研究的许多进一步方面将 完成 (ii)利用GMS技术已经获得了数据 显示任何两个受某种疾病影响的个体， 在这两个基因组中，IBD（血统相同） 个体 这些数据显示， IBD区域的聚类，其因此是基因座的候选区域 疾病基因。 由于数据来自不相关的个体， 需要一种类似TDT的统计分析来检验这种可能性， 将获得。 这一目标和（i）中的目标都集中在试图 来定位致病基因 (iii)调查取样工作 并将完成利用克隆和锚的基因组重建。 后者的理论类似于 目标（二）。

The aims of this proposal can be grouped into three main areas: (i) a continuation of theoretical work associated with the transmission/ disequilibrium test (TDT), (ii) to extend the TDT concept to new forms of data, especially that deriving from the technique of genomic mismatch scanning. (GMS), and (iii) to complete work in ascertainment sampling and genome reconstruction. (i) The transmission/disequilibrium test (TDT) has proved to be a major tool in the quest to find linkage between disease and marker loci and associations between disease and marker alleles. Recently an extension of the test, called the S-TDT (sib-TDT), has been obtained, which allows testing when information concerning the marker locus genotype of parents of affected children is not available. A method by which TDT and S-TDT data can be combined into one overall test was also found. Many further aspects of this research will be completed. (ii) Data have already been obtained using the GMS technique showing, for any two individuals affected by some disease, those parts of the genome which are IBD (identical by descent) in these two individuals. Aggregated over many such pairs, these data show clustering of IBD regions which are therefore candidate regions for loci for the disease genes. Since the data came from unrelated individuals, a TDT-like statistical analysis testing this possibility is needed and will be obtained. Both this aim and that in (i) focus on the attempt to locate genes causing diseases. (iii) Work in ascertainment sampling and genome reconstruction using clones and anchors will be completed. The theory for the latter is similar to that for the GMS technique of aim (ii).