LINKAGE ANALYSIS METHODS FOR HUMAN GENE MAPPING

长期目标是为统计分析提供新的方法 基因作图中的连锁数据，从而提高了可靠性和 估计结果的精确度。此外，在长期基础上， 为以下领域的软件提供可靠且普遍可用的支持 连锁分析。 具体目标集中在人类基因组计划的三个领域。 它们都解决了统计遗传学中的方法论问题 要么建议开发新的方法，要么改进现有的方法 方法：研究方法。目前的一些方法需要适应现在的情况。 基因组计划的现状，也就是利用 一张密集的标记地图的可用性。前两个具体目标 是针对遗传图谱的方法论的，最后一个是 具体目标侧重于技术传播和技术 以及研究人员在基因定位方面的方法学支持。这个 提出了以下三个具体目标，每个目标包括 指一小部分组件： 1.提高遗传图谱准确性的方法(性别趋势 重组馏分中的比率.交换的研究 分布；染色体图谱分析)。 2.绘制疾病基因图谱的方法(隐性疾病：估计 父母关系；隐性疾病：等位基因频率 通过IBD进行估计；连锁分析和连锁不平衡)。 3.传播方法(执行新开发的方法 并将它们添加到当前 用于基因作图的计算机程序；维护和更新这些 程序，并向研究人员提供这些程序；分发一个 联动通讯；支持用户应用联动 计划通过协作安排)。

The long-term goal is to provide new methods for statistical analysis of linkage data in gene mapping, thereby increasing reliability and precision of resulting estimates. Also, on a long-term basis, to provide reliable and generally available support for software in linkage analysis. The specific aims focus on three areas of the human genome project. They all address methodological problems in statistical genetics by proposing either development of new methods or improvement of existing methods. Some of the current methods need to be adapted to the present status of the genome project, that is, to take advantage of the availability of a dense map of markers. The first two specific aims are directed towards methodology in genetic mapping and the last specific aim focusses on dissemination of technology and on technical and methodological support of researchers in gene mapping. The following three specific aims are set forth, with each aim consisting of a small number of components: 1. Methods for improving the accuracy of the genetic map (Trend of sex ratio in recombination fractions; Investigation of crossover distributions; Analysis of chromosome maps). 2. Methods for mapping disease genes (Recessive diseases: Estimating relationship among parents; Recessive diseases: Allele frequency estimation via IBD; Linkage analysis and linkage disequilibrium). 3. Dissemination of methodology (To implement newly developed methods in computer programs and add them to the current collection of computer programs for genetic-mapping; To maintain and update these programs, and to make them available to researchers; To circulate a Linkage Newsletter; To support users in the application of linkage programs through collaborative arrangements).