CORE-- MOLECULAR BIOLOGY

核心--分子生物学

• 批准号: 6327572
• 负责人: Douglas C Wallace
• 金额: $ 29.05万
• 依托单位: EMORY UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2000
• 资助国家: 美国
• 起止时间: 2000-07-15 至 2003-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6327572
• 关键词: Alzheimer's disease; Parkinson's disease; aging; alleles; amyloid proteins; apolipoprotein E; biomedical facility; biopsy; blood chemistry; brain metabolism; chromosome 21; chromosome disorders; chymotrypsin inhibitor; clinical research; congenital disorders; gene mutation; genetic markers; genotype; human subject; mitochondrial DNA; molecular biology; molecular genetics; oxidative phosphorylation; tissue /cell culture; tissue resource /registry

The Molecular Biology Core provides core cell biological, biochemical and molecular genetic services to the Alzheimer Disease (AD) Center and helps foster research of Emory University and outside investigators. The cell biological services provided include collecting and cataloging blood samples from well characterized patients and controls provided by the Clinical core and preparing lymphoblastoid cell lines and DNAs from these samples. They also include collecting muscle biopsies from selected patients and controls, preparing myoblast cell lines, isolating muscle mitochondria, and purifying muscle DNA. Biochemical analyses include physiological screening and mitochondrial oxidative phosphorylation (OXPHOS) enzyme analysis of ADC patients and controls. The molecular genetic analyses encompass most of the known AD genetic determinants. Patients with early onset familial AD are screened for mutations in the amyloid precursor protein (APP) gene, and tests are being developed for the recently discovered S182 and STM2 genes. For patients with late onset AD, the Molecular Biology core performs apolipoprotein E genotyping, and analysis of the a/1-antichymotrypsin alleles A and T, and the complete set of mitochondrial DNA (mtDNA) markers including the tRNA/Gln np4336G mutation. The Core also tests for markers of AD progression including somatic mtDNA rearrangement and base substitution mutations. All patient records, materials catalogued, and test results are maintained in an integrated but secure database.

分子生物学核心提供核心细胞生物学，生化和 分子遗传服务到阿尔茨海默氏病（AD）中心，并有助于 促进埃默里大学和外部研究人员的研究。 细胞 提供的生物服务包括收集和分类血液 来自特征良好的患者和对照的样本 临床核心并从中制备淋巴母细胞系和DNA 样品。 它们还包括从选定的 患者和对照，准备肌细胞细胞系，隔离肌肉 线粒体和净化肌肉DNA。 生化分析包括 生理筛选和线粒体氧化磷酸化 （OXPHOS）ADC患者和对照组的酶分析。 分子 遗传分析涵盖了大多数已知的AD遗传决定因素。 早期发作家族广告的患者被筛选为突变 淀粉样蛋白前体蛋白（APP）基因和测试正在开发 最近发现的S182和STM2基因。 对于发病迟发的患者 AD，分子生物学核心执行载脂蛋白E基因分型，并且 分析A/1-抗抗磷灰蛋白蛋白酶A和T，以及完整的集合 线粒体DNA（mtDNA）标记，包括tRNA/GLN NP4336G 突变。 核心还测试了广告进展标记的核心 体细胞mtDNA重排和碱基取代突变。 所有病人 记录，材料分类和测试结果在 集成但安全的数据库。