DNA Repair and Checkpoint Genes as NF1 Modifiers
Abstract
This study aims to determine whether common protein altering single nucleotide polymorphisms (SNPs) in DNA repair or cell cycle checkpoint genes are associated with higher or lower than average neurofibroma numbers. For this allele association study we are collecting DNAs and RNAs from NFl patients that represent the top and bottom 20% of neurofibroma burden. In the first year of this project we established contacts with 169 interested patients, identified 99 eligible individuals, and enrolled 43. DNAs from 50 anonymous patients that match our eligibility criteria have also been offered by a clinical collaborator. With recruitment ongoing, we focused on developing genotyping assays. Rather than only analyzing the limited number of genes included in an MIT Genome Center SNP discovery screen as originally planned, we used information generated by the human genome project to generate a database of 325 missense SNPs in 185 candidate genes. 57 SNPs are of special interest because their variant allele frequency is in the range for which we can expect statistically significant results. Single base extension fluorescence polarization genotyping assays for these SNPs are being developed.
Document Details
- Document Type
- Technical Report
- Publication Date
- Oct 01, 2001
- Accession Number
- ADA400473
Entities
People
- Andre Bernards
Organizations
- Massachusetts General Hospital