GENETIC MODIFIERS OF CYSTIC FIBROSIS: SIBLING STUDY

囊性纤维化的遗传修饰因子：兄弟姐妹研究

• 批准号: 7604893
• 负责人: RICHARD C AHRENS
• 金额: $ 0.14万
• 依托单位: UNIVERSITY OF IOWA
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-03-01 至 2007-09-16
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7604893
• 关键词: Affect; Clinical Research; Computer Retrieval of Information on Scientific Projects Database; Cystic Fibrosis; Disease; Funding; Genes; Genetic; Grant; Institution; Modeling; Other Genetics; Phenotype; Population; Research; Research Personnel; Resources; Siblings; Source; Twin Multiple Birth; Twin Studies; United States National Institutes of Health

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. Cystic fibrosis (CF) is a highly variable but inevitably fatal single gene disorder. Several lines of evidence suggest that genetic background contributes to the variability of CF phenotypes. These investigators propose to develop CF as a model for the identification of modifier genes by capitalizing on the availability of a large motivated population of affected twins and siblings. The four aims of the study are: 1) to identify heritable CF phenotypes by twin study; 2) to determine the contribution of genetic and other factors to the variability of CF phenotypes by analysis of affected siblings; 3) to identify biologic phenotypes that correlate with heritable CF phenotypes by clinical study of twins and siblings; and 4) to identify modifier genes and loci responsible for heritable CF phenotypes by linkage approaches.

该子项目是利用该技术的众多研究子项目之一 资源由 NIH/NCRR 资助的中心拨款提供。子项目及 研究者 (PI) 可能已从 NIH 的另一个来源获得主要资金， 因此可以在其他 CRISP 条目中表示。列出的机构是 对于中心来说，它不一定是研究者的机构。 囊性纤维化（CF）是一种高度可变但不可避免致命的单基因疾病。 多项证据表明遗传背景导致 CF 表型的变异。 这些研究人员建议利用大量受影响的双胞胎和兄弟姐妹的积极性，开发 CF 作为识别修饰基因的模型。 该研究的四个目的是：1）通过双胞胎研究鉴定可遗传的 CF 表型； 2) 通过分析受影响的兄弟姐妹来确定遗传和其他因素对 CF 表型变异的贡献； 3) 通过对双胞胎和兄弟姐妹的临床研究来鉴定与可遗传的 CF 表型相关的生物学表型； 4) 通过连锁方法鉴定负责可遗传 CF 表型的修饰基因和基因座。