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DNA Repair and Checkpoint Genes as NF1 Modifiers
Annual rept. 1 Oct 2001-30 Sep 2002
MASSACHUSETTS GENERAL HOSPITAL BOSTON
Pagination or Media Count:
This study aims 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. To date we identified 746 protein altering alleles of 273 candidate modifier genes and we prioritized 138 common SNPs for analysis. We also established contacts with 252 NF1 patients and enrolled 66 eligible individuals. Since for several reasons recruitment was running behind schedule we enlisted additional clinical collaborators. Contingent upon obtaining regulatory approval, DNA from 459 eligible patients is currently available for analysis. With recruitment continuing, we evaluated various high throughput genotyping methods. We identified three robust methods which we have used to determine 10,000 individual genotypes for 23 SNPs in 19 genes. By contrast, we found single base extension fluorescence polarization genotyping to be less reliable. Three grant-proposals have been submitted based on preliminary data obtained in this project, and one NIH R01 grant was recently awarded.
APPROVED FOR PUBLIC RELEASE