Analysis of Phenotypic Variability in Neurofibromatosis Type I (NF1)
Abstract
This project was designed to characterize the sources of phenotypic variability in neurofibromatosis 1 (NF1) by a combination of clinical, statistical, epidemiological, and molecular genetic methods. We have analysed associations found in clinical and genetic data from the NNFF International Database and two other databases with logistic regression and generalized estimating equations. We then extended these methods to use multivariate probit models on familial data. These are novel statistical techniques that have not been used in this way before and yielded interesting results about the sources of phenotypic variability. We were able to determine that the presence of some features of NF1 are more influenced by variability in the NF1 allele, others by the normal NF1 allele and still others by unlinked modifying genes. We have set up, and tested the screening protocol to identify the constitutional mutations of NF1 and have obtained a number of blood samples. We have results for one of our phenotypic subgroups and are completing the analysis at the present time.
Document Details
- Document Type
- Technical Report
- Publication Date
- Oct 01, 2001
- Accession Number
- ADA403609
Entities
People
- Jan M. Friedman
Organizations
- University of British Columbia