COBRE: UAF: CANHR GENETICS CORE

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。阿拉斯加土著健康研究中心(CANHR)遗传学核心(Leader，Boyer)的目标是提供基因分型仪器，以及(与流行病学-生物信息学核心合作)谱系构建、清洁、修剪和合并方面的专业知识和服务。此外，在遗传学核心工作的技术人员和博士后研究员接受了DNA分离、存储以及微卫星和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帮助进行血液处理和血统收集。遗传学核心人员还与生物统计核心密切合作，以简化谱系清理和修剪程序，并使基因数据检索、存储和备份自动化。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。去年，我们对尤普伊克爱斯基摩人样本进行了10 cM基因组亚扫描，获得了初步结果。对564个样本的56个家系进行了方差成分分析。使用EnSembl和GeneLoc数据库评估标记是否位于候选基因中。我们在先前确定的连锁区域中获得了令人鼓舞的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.