GENETIC MODIFIERS OF CYSTIC FIBROSIS: SIBLING STUDY

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 囊性纤维化是一种高度可变但不可避免的致命性单基因疾病。一些证据表明，遗传背景导致了CF表型的变异性。这些研究人员建议，通过利用大量受影响的双胞胎和兄弟姐妹的可获得性，将CF发展为识别修饰基因的模型。这项研究的四个目的是：1)通过双生子研究确定可遗传的CF表型；2)通过对患病同胞的分析，确定遗传和其他因素对CF表型变异的贡献；3)通过双胞胎和兄弟姐妹的临床研究，确定与可遗传的CF表型相关的生物表型；以及4)通过连锁方法确定与可遗传的CF表型相关的修饰基因和基因座。

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.