COBRE: UAF: CANHR GENETICS CORE

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子项目和研究者（PI）可能从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。所列机构为中心，不一定是研究者所在机构。阿拉斯加土著健康研究中心（CANHR）遗传学核心（领导者，Boyer）的目标是提供基因分型仪器，以及谱系构建，清理，修剪和合并的专业知识和服务（与流行病学-生物信息学核心合作）。此外，在遗传学核心工作的技术人员和博士后研究员都接受过DNA分离，储存以及微卫星和SNP基因分型方面的培训。其中一名博士后研究员在我们访问的农村协助血液处理和血统收集。遗传学核心人员还与生物统计学核心密切合作，以简化谱系清理和修剪程序，并自动化基因型数据检索，存储和备份。制定的样品处理、加工和管理计划确保了样品的完整性和安全性。在过去的一年里，我们已经从我们正在进行的10 cM基因组亚扫描Yup UNK ik爱斯基摩样本获得了初步结果。对564个样本的56个家系进行方差分量分析。使用Ensembl和GeneLoc数据库进行标记物是否位于候选基因中的评估。我们在先前确定的连锁区域获得了令人鼓舞的LOD分数，我们认为这些初步结果非常令人鼓舞。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The goal of the Center for Alaska Native Health Research (CANHR) Genetics core (Leader, Boyer) is to provide genotyping instrumentation, as well as expertise and services for pedigree construction, cleaning, trimming and merging (in collaboration with the Epidemiology-Bioinformatics core). Moreover, the technicians and postdoctoral fellows working in the Genetics core have been trained in DNA isolation, storage, and both microsatellite and SNP genotyping. One of the postdoctoral fellows has been instrumental in assisting in blood processing and pedigree collection in the rural villages that we visit. Genetics core personnel are also working in close collaboration with the Biostatistics core to streamline pedigree cleaning and trimming procedures and to automate genotypic data retrieval, storage, and backup. The sample handling, processing and management plans developed insure sample integrity and security. In the last year, we have obtained preliminary results from our ongoing 10cM genome sub-scan on Yup¿ik Eskimo samples. Variance component analysis was performed with 56 pedigrees on 564 of the samples. Evaluations whether markers were located in a candidate gene were performed using the Ensembl and GeneLoc databases. We obtained encouraging LOD scores in previously identified linkage regions and we view these preliminary results as highly encouraging.