DNA Repair and Checkpoint Genes as NF1 Modifiers
Abstract
This study is aimed to determine whether common protein altering SNP alleles of DNA repair or DNA damage-associated checkpoint genes are associated with higher or lower than average neurofibroma burden in NF1 patients. As part of this project, we identified 793 missense single nucleotide polymorphisms (SNPs) in 293 candidate modifier genes. We also generated three relational databases to manage SNP and genotype information. Beyond data mining and generating information handling tools, we recruited approximately 80 eligible patients using our originally planned recruitment strategy. Because recruitment fell short of the required 600 patients during the final year of this grant, we enlisted six additional clinical collaborators. With recruitment continuing, we evaluated several high throughput genotyping methods. Single base extension fluorescence polarization genotyping was deemed too cumbersome, but using allele-specific PCR or restriction fragment length polymorphism genotyping, we determined ^20,000 individual genotypes for 37 SNPs in 26 genes. Three grant proposals have been submitted based on preliminary data obtained in this project, and NIH R01 and Army Investigator-Initiated Research Grants have recently been awarded.
Document Details
- Document Type
- Technical Report
- Publication Date
- Nov 01, 2003
- Accession Number
- ADA418910
Entities
People
- Andre Bernards