STOCHASTIC PROCESSES IN POPULATION GENETICS

这项提案的目标可归结为三个主要领域：(1)a 继续与变速器有关的理论工作/ 不平衡检验(TDT)，(Ii)将TDT概念扩展到新形式 数据，尤其是来自基因组错配技术的数据 扫描中。(3)完成确证抽样工作 和基因组重建。(I)传递/不平衡检验 (TDT)已被证明是寻找两者之间联系的主要工具 疾病与标记基因座及疾病与标记间的关联 等位基因。最近，这项测试的扩展被称为S-TDT(SIB-TDT)， ，这允许测试何时关于 未提供受影响儿童父母的标记基因座基因型。 TDT与S TDT资料合二为一的方法 测试也被发现了。这项研究的许多进一步方面将是 完成。(2)已使用GMS技术获取数据 对于任何两个受某种疾病影响的个体，显示这些部分 这两个基因中哪些是IBD(通过血缘关系相同) 个人。这些数据表明，汇总了许多这样的配对 因此成为基因座候选区域的IBD区域的聚集性 疾病基因。由于数据来自无关的个人， 需要一个类似TDT的统计分析来测试这种可能性，并且 将会被获得。这个目标和(I)中的那个都集中在尝试上 来定位导致疾病的基因。(三)确证抽样工作 并将完成使用克隆和锚定的基因组重建。 后者的原理类似于GMS技术的原理 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).