QUANTITATIVE ASPECTS OF HIGH RESOLUTION HUMAN GENETIC MAPS

高分辨率人类遗传图谱的定量方面

• 批准号: 6109101
• 负责人: KENNETH H BUETOW
• 金额: --
• 依托单位: UNIVERSITY OF IOWA
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-02-01 至 1999-01-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6109101
• 关键词: chromosomes; computer assisted sequence analysis; computer program /software; computer simulation; genetic library; genetic markers; genotype; heterozygote; human genetic material tag; human population genetics; information systems; linkage disequilibriums; linkage mapping; mathematical model; meiosis; statistics /biometry

As a consequence of the collaborative efforts of several large international groups, including the Cooperative Human Linkage Center (CHLC), the goal of obtaining a 2 - 5 centiMorgan (cM) human genetic map has been obtained. The realization of this goal, however, does not signify that the human genetic map is complete. To the contrary, this map represents only an important step in the generation of a collection of genetic reagents that will facilitate the larger goals of the Human Genome Project. The FY93-FY98 strategic goals of the Human Genome Project recognized that to achieve the larger goals of the program investment in areas in addition to sequencing was required. These goals restated that improvement of genetic mapping technology continues to be important. Key areas described as important included the development of: ) genotyping methods that are amenable to automated analysis and are much more cost- effective and easier to use than currently available resources, 2) new types of genetic markers, and 3) new analytical tools that will maximize the utility of the genetic map, especially for application to the dissection of complex traits. It is the overall goal of this proposal to facilitate the continued development and use of the human genetic map. Within this proposal the objectives of the previous application will be continued and expanded. Effort will be made to continually update the genetic map with genotype data from the CEPH reference panel as well as with genotype data generated on alternative family resources. Genetic map data will be integrated with physical mapping data to obtain "proxy" locus positions for polymorphic markers. Current efforts to extend analytic methods for using genetic maps to identify genetic components of complex traits will also be continued. Simulation studies will be performed to assess optimal marker characteristics and spacing for complex trait analysis. Analytic tools that integrate non-parametric linkage and disequilibrium analysis will be explored. New efforts will focus on development of analytic tools that will facilitate the identification of sequence variation which will have the potential of utility as new genetic markers. These methods will identify "candidate" polymorphisms from publicly available sequence data. Develop algorithms to identify STR and bi-allelic polymorphisms from cDNA-UTRs, ESTs, and genomic DNA sequence.

作为几家大型企业合作努力的结果 国际团体，包括合作人类联系中心 (CHLC)，目标是获得2-5厘米摩根(Cm)的人类遗传图谱 已经获得了。然而，实现这一目标并不意味着 这意味着人类的基因图谱已经完成。相反，这张地图 仅表示在生成 将促进人类更大目标的遗传试剂 基因组计划。 人类基因组计划的FY93-FY98战略目标承认 为了实现该计划在以下领域的投资的更大目标 除了测序外，还需要进行测序。这些目标重申了 改进基因图谱技术仍然很重要。钥匙 被描述为重要的领域包括：)基因分型的发展 易于自动分析且成本更高的方法- 比当前可用的资源更有效且更易于使用，2)新的 遗传标记的类型，以及3)新的分析工具，将使 遗传图谱的用途，尤其是在遗传图谱上的应用 对复杂特征的剖析。 这项提案的总体目标是促进继续 人类基因图谱的开发和利用。在这项提案中， 上一次申请的目标将继续和扩大。 将努力不断更新基因图谱的基因分型。 来自CEPH参考小组的数据以及基因数据 在替代的家庭资源上产生。基因图谱数据将被 与物理测绘数据相结合，获得“代理”轨迹位置 用于多态标记。目前正在努力将分析方法扩展到 使用遗传图谱来识别复杂性状的遗传成分将 也将继续。将进行模拟研究，以评估最佳 用于复杂性状分析的标记特性和间距。分析 集成非参数关联和不平衡分析的工具 将会被探索。新的努力将集中在分析工具的开发上 这将有助于识别序列变异，这将 具有作为新的遗传标记的应用潜力。这些方法将 从可公开获得的序列数据中识别“候选”多态。 开发识别STR和双等位基因多态的算法 CDNAUTRs、ESTs和基因组DNA序列。