CORE--GENOTYPE

基因分型核心将为两个项目和一个从事基因发现工作的试点项目提供维护人类病例材料的集中资源。这些方法使用亚表型分型、精细作图、基因组重排和混合方法（Lidral、Marazita、Murray）。家族（>600）和病例/父母三联体（500）的核心资源来自Lidral/Marazita/Murray全基因组连锁搜索合作，由遗传疾病研究中心（CIDR）进行基因分型。所有的家系材料都已进行了392个微卫星标记的基因分型，为增加表型（项目0002）、基因作图数据（项目0001和试点）和候选基因数据（项目0003、0004、0005）提供了前所未有的机会 和核心E）使用这些核心活动。核心还将提供Lidral，Marazita和Murray项目的基因分型，使用高通量方法提供基因/位点上的156个SNP。基因分型核心将与生物统计学和功能分析核心整合。 这种核心的整合将提供一个机会，以开发一个合成的基因型/单倍型/表达图的所有58个基因在10 Mb区域的9 q进行详细的精细映射作为试点数据，提供全球遗传/表达图的基因路径不可或缺的颅面发育。将使用过去五年开发的管理系统管理向生物统计核心的数据转移。 与核心E的相互作用将使我们能够继续选择最佳的候选/地标基因，以纳入精细定位和测序研究。基因分型将在爱荷华州大学的默里实验室进行，或者通过与商业公司的联系进行。Murray博士将担任基因分型核心的总负责人，Cathy Dragan将协助他进行日常操作，Cathy Dragan将担任主要数据分析师。

The genotyping core will provide a centralized resource for maintaining human case material for the two projects and one Pilot engaged in gene discovery efforts. These use subphenotyping, fine mapping, genomic rearrangement and admixture approaches (Lidral, Marazita, Murray). The core resource of families (>600) and case/parent triads (500) is derived from the Lidral/Marazita/Murray genome-wide linkage search collaboration with genotyping done by the Center for Inherited Disease Research (CIDR). All family material has been genotyped for 392 microsatellite markers providing an unprecedented opportunity to add phenotypes (Project 0002), gene mapping data (Project 0001 and Pilot) and candidate gene data (Projects 0003, 0004, 0005 and Core E) to this material using these Core activities. The Core will also provide genotyping in the Lidral, Marazita and Murray projects with a common set of 156 SNPs on genes/loci available using high throughput methods. The genotyping core will be integrated with both the biostatistics and functional analysis cores. This integration of cores will provide an opportunity to develop a synthesized genotype/haplotype/expression map for all 58 genes in a 10 Mb region on 9q undergoing detailed fine mapping as pilot data for providing global genetic/expression maps of gene paths integral to craniofacial development. Data transfer to the biostatistics core will be managed using a management system developed over the last five years. Interactions with Core E will allow us to continue to select the best candidate/landmark genes for incorporation into the fine mapping and sequencing studies. Genotyping will be based in the Murray Lab at the University of Iowa or done through outreach to commercial firms. Dr. Murray will serve as the overall director of the genotyping core and he will be assisted in the day-to-day operation by Cathy Dragan who will serve as the primary data analyst.