GENETIC MODIFIERS OF CYSTIC FIBROSIS: SIBLING STUDY

这个子项目是众多研究子项目之一

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.