Genetic Core

说明)： 核心C将为所有核心和项目1提供生物库、遗传分析和信息学服务。 2.核心C将维护和分发样本、细胞系和基因结构。核心C还将评估 家族性和非典型帕金森氏症的遗传贡献，重点是相关的致病突变和 相关的易感变异。具体目标有四个： 目标1)信息学：提供、维护和改进B、C核之间的数据存储和集成 和D，以及项目1、2和3。最低限度的临床、病理和家谱数据包括主要的 诊断、谱系关系和样本可用性。将在样品中附加基因数据 识别符。核心C将提供变量选择、描述性统计和功率分析方面的帮助，以 帮助管理样本和血统的确定。 目的2)生物库：个体样本包括血液、细胞系和脑组织，它们是条形码和 已被信息跟踪。DNA将从血液或冰冻的大脑中分离出来，生物标本将成为高质量的 被控制和存档。该储存库包括克隆的基因的细胞系和质粒，连接或 与帕金森症有关的药物，可作为积极对照，可根据要求分发。 目的3)评估与帕金森病有关的基因的罕见和常见变异：完整基因 将根据多发性帕金森氏症家系的疾病遗传模式进行测序 SNCA、LRRK2、EIF4G1.VPS35、PRKN、PINK1和DJ-1。所有点突变和数量外显子 还将检查与单基因形式的帕金森综合征有关的缺失/复制突变。此外, 对常见的既定遗传风险因素的评估将包括在我们的筛查中。 目的4)为梅奥·尤德尔中心和外部项目提供核心基因分型设施 Udall网络：项目1和项目2将需要对特定基因和变种进行基因分型。 C将根据项目3的需要提供额外的动物模型基因分型。核心C还将支持 促进尤德尔中心之间已建立的和新的合作，并根据要求提供基因分析。 相关性(请参阅说明)： 帕金森氏症的基因发现彻底改变了体外和体内的研究领域 疾病模型系统和产生治疗发展的新途径。为了实现这一目标，核心C将 根据需要为所有核心和项目提供生物库、基因分型和信息学服务 此外，还促进了与其他尤德尔中心遗传成分的合作。

instmctions): Core C will provide biobanking, genetic analysis and informatics services for all Cores and for Projects 1 and 2. Core C will maintain and distribute samples, cell lines and gene constructs. Core C will also assess the genetic contribution to familial and atypical parkinsonism, focusing on linked pathogenic mutations and associated susceptibility variants. There are four specific aims: Aim 1) Informatics: To provide, maintain and improve data storage and integration among Cores B, C and D, and for Projects 1, 2 and 3. Minimal clinical, pathological and genealogical data includes major diagnoses, pedigree relationships and sample availability. Genotype data will be appended to sample identifiers. Core C will provide assistance with variant selection, descriptive statistics and power analyses to help manage sample and pedigree ascertainment. Aim 2) Biobanking: Individual samples include blood, cell lines and brain tissue that are bar-coded and informatically tracked. DNA will be isolated from blood or frozen brain, and biospecimens will be quality controlled and archived. The repository includes cell lines and plasmids of cloned genes, linked or associated with parkinsonism, that serve as positive controls that may be distributed on request. Aim 3) Assessment of rare and common variants in genes linked to parkinsonism: Complete gene sequencing will be performed based on disease inheritance pattern in multi-incident Parkinsonian families for SNCA, LRRK2, EIF4G1. VPS35, PRKN, PINK1 and DJ-1. All point mutations and quantitative exonic deletion/duplication mutations linked to monogenic forms of parkinsonism will also be examined. In addition, assessment of common established genetic risk factors will be included within our screens. Aim 4) Provide core genotyping facilities to the projects of the Mayo Udall center and external Udall network: Genotyping of specific genes and variants will be required for Project 1 and Project 2. Core C will provide additional animal model genotyping as needed for Project 3. Core C will also support and foster established and new collaborations between Udall Centers and provide genetic analysis as requested. RELEVANCE (See instructions): Genetic discoveries in parkinsonism have revolutionized the research field directing in vitro and in vivo disease model systems and generating novel avenues of therapeutic development. To this aim Core C will provide biobanking, genotyping and infonnatics services for all Cores and Projects as required and additionally foster collaborations with the genetic component of other Udall Centers.