| abstract |
A way of identifying disease associated genes, and their mis-regulation, has been developed. This is accomplished by: n 1) Analysis of 2-3 kb upstream of open reading frames to identify promoter SNPs likely to be “functional.” n 2) Identifying SNPs within transcription factor clusters (“TFCs”). It appears that these TFCs can be located just about anywhere in relation to the gene(s) they regulate (5′ or 3′ with varying distance). n 3) Identification of Alu sequences to find presence-or-absence polymorphisms. n By identifying SNPs that are located in the promoter region, one may easily identify the gene that is regulated by the SNP harboring sequence and reasonably deduce that the gene product (or an abnormal level of the product) is somehow involved in the disease at hand. Comparison and analysis may be carried out with the sequences available in the databases identified in the provisional. The number of “typings” is significantly reduced by only comparing those sequences that are associated with already identified and interesting genes (hypertension, endocrinology, and others with known SNPs in the promoters). “Heath chips” which contain many different sequences of interest can be used for screening of patient or control samples, to generate profiles of disease associated markers and risk of disease in an individual or population of individuals. These can also be used for drug design and testing. |