GENETICS

遗传学

• 批准号: 7727085
• 负责人: MARTIN R. POLLAK
• 金额: $ 61.69万
• 依托单位: BRIGHAM AND WOMEN'S HOSPITAL
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/7727085
• 关键词: 5' Flanking Region; Address; Biochemical; Blood; Calcium Oxalate; Calculi; Candidate Disease Gene; Cells; Cheek structure; Chemicals; Citrate; Citrates; Clinical; Code; Collaborations; Communities; Complementary DNA; Complex; DNA; DNA Sequence; DNA Sequence Analysis; Data; Databases; Deposition; Development; Disease; Environmental Risk Factor; Epidemiologic Studies; Frequencies; Gene Expression; Gene Frequency; Genes; Genetic; Genetic Polymorphism; Genetic Variation; Genome; Genomics; Genotype; Goals; Haplotypes; Homeostasis; Human; Individual; Kidney Calculi; Laboratories; Linkage Disequilibrium; Mus; Mutagenesis; Nephrolithiasis; Nucleic Acid Regulatory Sequences; Phenotype; Physiological; Population; Preparation; Production; Program Research Project Grants; Purpose; Quality Control; Research Personnel; Retrieval; Role; SNP genotyping; Sampling; Services; Single Nucleotide Polymorphism in Coding Sequence; Technology; Urate; Urine; Variant; base; case control; data management; design; design and construction; expression cloning; genetic variant; interest; programs; promoter; protein function; urinary

Gore A (Genetics) will perform the following services: Service 1: Manage clinical samples Core A will coordinate the retrieval of blood and cheek cell samples from the 3000 cases and controls stored in the Channing Laboratory biorepository and the preparation of DMA from these samples. Service 2: Perform mutational analysis of candidate genes. Core A will use direct DNA sequence analysis to identify DNA sequence variants in 34 candidate genes chosen on the basis of roles in calcium, oxalate, urate, and citrate homeostasis. SNP data from these genes will be used by Projects 1 and 2 for studies of the effect of genetic variants on protein function as well as the epidemiologic studies of Project 3. Service 3: Genotype variants (cSNPs defined as above and tagging SNPs) in 1500 stone formers and 1500 controls. Core A will manage the SNP genotyping efforts of this program. This will include cSNPs (identified as above) and a set of tagging SNPs. The genotyping of other polymorphisms of specific interest to individual projects will also be performed by the Core. Service 4: Maintain database and public website. Dissemination of the large volume of genetic data generated will be an important goal of this Program Project. The core will maintain a database of all genetic information obtained via Services 2 and 3. A publicly accessible website will make data quickly available to the outside community. Service 5: cDNA construct production. Design, construction, mutagenesis, and verification of cDNA clones for expression studies in Projects 1 and 2 will be performed in Core A. The Core will also develop additional expression constructs to facilitate outside collaborations. Service 6: Mouse genotyping. Projects 1 and 2 will require ongoing mouse DNA preparation and genotyping. This genotyping will be performed by Core A in order to increase quality control and efficiency of mouse analyses. In summary, the core will facilitate efforts of the Projects by coordination of genomic DNA preparation, sequencing, and genotyping (human and mouse studies), facilitation of the functional examination of gene variants via construct production, and management of data sharing with outside investigators.

血腥A（遗传学）将执行以下服务： 服务1：管理临床样本 核心A将协调从3000例病例中的血液和脸颊细胞样品的检索，并控制存储的对照 在Channing Laboratory Biorepository和这些样品中DMA的制备。 服务2：对候选基因进行突变分析。核心A将使用直接DNA序列分析到 根据在钙，草酸盐中的作用基础上选择的34个候选基因中的DNA序列变体， 乌拉特和柠檬酸盐稳态。这些基因的SNP数据将由项目1和2使用 遗传变异对蛋白质功能以及项目3的流行病学研究的影响。 服务3：基因型变体（CSNP定义为上述和标记SNP）和1500个石材中的1500 控件。核心A将管理该计划的SNP基因分型工作。这将包括CSNP（已确定 如上所述）和一组标记SNP。具有特定兴趣的其他多态性的基因分型 各个项目也将由核心执行。 服务4：维护数据库和公共网站。传播大量遗传数据 生成将是该计划项目的重要目标。核心将维护所有遗传的数据库 通过服务2和3获得的信息。公开访问的网站将使数据迅速可用 外部社区。 服务5：cDNA构建生产。 cDNA克隆的设计，结构，诱变和验证 对于项目1和2中的表达研究，将在核心A中进行。 表达构造以促进外部协作。 服务6：鼠标基因分型。项目1和2将需要持续的小鼠DNA制备和基因分型。 该基因分型将由核心A进行，以提高小鼠的质量控制和效率 分析。 总而言之，核心将通过基因组DNA制备的协调来促进项目的努力， 测序和基因分型（人类和小鼠研究），促进基因功能检查 通过构造生产以及与外部调查人员共享数据共享的变体。