CORE--GENOTYPE

基因分型核心将为两个项目和一名从事基因发现工作的飞行员提供维护人类病例材料的集中资源。这些方法使用亚表型、精细作图、基因组重排和混合方法(Lidral、Marazita、Murray)。家族(&gt；600)和病例/父母三联体(500)的核心资源来自Lidral/Marazita/Murray全基因组范围的连锁搜索协作，由遗传病研究中心(CIDR)完成基因分型。所有家庭材料都进行了392个微卫星标记的基因分型，这为增加表型(项目0002)、基因图谱数据(项目0001和Pilot)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)使用这些核心活动添加到该材料。该中心还将在Lidral、Marazita和Murray项目中提供基因分型，使用高通量方法在基因/基因座上提供一套通用的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在一起。 这种核心的整合将提供一个机会，为在9q上进行详细精细定位的10Mb区域的所有58个基因开发一个合成的基因/单倍型/表达图谱，作为提供头面部发育所必需的基因路径的全球遗传/表达图谱的先导数据。向生物统计核心的数据传输将使用过去五年开发的管理系统进行管理。 与Core E的互动将使我们能够继续选择最佳候选/标志性基因，以纳入精细的图谱和测序研究。基因分型将在爱荷华大学的默里实验室进行，或者通过接触商业公司来完成。默里博士将担任基因分型核心的总负责人，他将在凯西·德拉根(Cathy Dragan)的日常工作中得到协助，后者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.