GENETIC DIAGNOSTIC TEST FOR ESSENTIAL HYPERTENSION

点击翻译按钮获取中文摘要

DESCRIPTION (provided by applicant): Essential hypertension, or elevated blood pressure of unknown etiology, is responsible for more morbidity and mortality than the top five leading diseases. However, no diagnostic test exists for the prediction of essential hypertension. We have developed a human diagnostic test based on 4 single nucleotide polymorphisms (SNPs) that will successfully predict the hypertensive phenotype approximately 70 percent of the time (1) in Ghanaians, and 92 percent of the time in Japanese (2). Our studies have been conducted in several ethnic populations such as Ghanaians (n = 80), Japanese (n = 800), and Italian Caucasians (n = 120). We have a patent pending on three of the diagnostic SNPs found in the G protein related kinase type 4 (GRK4) (3). We have successfully sublicensed access to a key fourth SNP in the angiotensin converting enzyme (ACE) gene. This hypertension predicting genetic profile, called the "Hypogen Test," can be easily and affordably measured using our published method (4) employing the Amplifluor TM technology using a conventional thermal cycler followed by a closed tube fluorescent endpoint. Our specific aims are focused on: 1). improving the predictive capability of diagnostic test by broadening the SNP profile, by testing additional SNPs associated with essential hypertension in our previously tested cohorts, and: 2) expanding the potential use of the test by testing a recently acquired Chinese cohort (N=800). We also plan on transitioning the Hypogen Test from the research laboratory to a clinical laboratory certified by the clinical laboratory improvement act of 1988 (CLIA) to perform molecular diagnostic testing so that patient specimens may be analyzed