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?Search for regulatory elements for coagulation factors
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By Isis, Section Help
Posted on Mon Apr 9th, 2007 at 01:27:27 PM PST
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I propose to perform genome wide SNP analysis on patients with thrombosis versus control DNA to search for enhancer regions for coagulation factors.
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| Venous thrombosis is a complex disease in which the final phenotype is a consequence of the interaction between genes and the environment. It is recognized in many genetic diseases that only a subset of mutations reliably predicts phenotype. As more disease causing genes are discovered, more incomplete genotype-phenotype correlation is found. This is partially due to the modifier effect of cis and trans acting elements, many of which are unknown in thrombosis. In order to identify coagulation factor regulatory regions, I propose to perform a genome wide DNA microarray using genomic DNA of patients with familial venous thrombosis to look for SNPs which segregate with the disease when compared to control DNA. From the expected large number of SNPs identified, further analysis will be undertaken using DNA footprinting with transcription factors to identify SNPs that contain potential regulatory regions. From this information it may be possible to identify changes in regulatory regions which result in varied expression of prothrombotic and antithrombotic coagulation factors, and account for some of the variability in the development and occurrence of thrombosis.
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