Analysis of Phenotypic Variability in Neurofibromatosis, Type 1
Abstract
This project is designed to characterise the sources of phenotypic variability in neurofibromatosis 1 (NFl) by a combination of clinical, statistical, epidemiological, and molecular genetic methods. During the second year of the project, we analysed associations found in clinical and genetic data from the NNFF International Database with logistic regression, generalized estimating equations. During the third year, the results of these methods were extended to use multivariate probit models on familial data. These are novel statistical techniques that have not been used in this way before and they yielded interesting results about the sources of phenotypic variability in NEl. We were able to determine that the presence of some features of NEl are more influenced by variability in the NEl allele, others by the normal NEl allele and still others by unlinked modifying genes. We have asked for and have received a fourth year, no cost extension to complete the analysis of NEl allele-phenotype associations and to continue to explore some other possible sources of variability, such as imprinting.
Document Details
- Document Type
- Technical Report
- Publication Date
- Oct 01, 2000
- Accession Number
- ADA387760
Entities
People
- Jan M. Friedman
Organizations
- University of British Columbia