APPLIED GENOMICS IN CARDIOPULMONARY DISEASE

心肺疾病中的应用基因组学

• 批准号: 6391255
• 负责人: ALAN F SCOTT
• 金额: $ 11.3万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2000
• 资助国家: 美国
• 起止时间: 2000-09-30 至 2004-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6391255
• 关键词: asthma; biomedical resource; cardiopulmonary disease; chronic obstructive pulmonary disease; clinical research; cooperative study; cystic fibrosis; functional /structural genomics; gene expression; genetic library; genetic polymorphism; genotype; human genetic material tag; human tissue; linkage mapping; microarray technology; posttranslational modifications; tissue resource /registry

The use of single nucleotide polymorphisms (SNPs) is likely to become a major tool for the discovery of genetic linkage and disease association in the coming decade. New technologies currently entering the laboratory will allow investigators to perform high throughput studies that, until now, were impossible. The Genotyping Core proposes to locate SNPs in genes with demonstrated or presumed relevance to human cardiopulmonary disease. We will select 20 candidate genes for SNP analysis per year in airway diseases (cystic fibrosis, chronic obstructive pulmonary disease, and asthma) and selected from comparisons of our expression profiling analysis in human and animal models of human disease. We anticipate three to five SNPs per gene, which we can then evaluate in well-defined patient populations. We hypothesize SNP may explain phenotypic differences in carefully defined disease severity.

单核苷酸多态性（SNP）的使用很可能成为未来十年发现遗传连锁和疾病关联的主要工具。目前进入实验室的新技术将使研究人员能够进行迄今为止不可能实现的高通量研究。基因分型核心建议在已证实或推测与人类心肺疾病相关的基因中定位 SNP。我们每年将在气道疾病（囊性纤维化、慢性阻塞性肺病和哮喘）中选择 20 个候选基因进行 SNP 分析，并从我们在人类疾病的人类和动物模型中的表达谱分析的比较中选出。我们预计每个基因有 3 到 5 个 SNP，然后我们可以在明确的患者群体中进行评估。我们假设 SNP 可以解释仔细定义的疾病严重程度的表型差异。