A NEW GENETIC TEST FOR FAMILIAL HYPERALDOSTERONISM TYPE-I AIDS IN THEDETECTION OF CURABLE HYPERTENSION

In Familial Hyperaldosteronism Type I (FH-I, glucocorticoid-suppressib le hyperaldosteronism), a curable form of hypertension inherited in an autosomal dominant fashion, the underlying genetic defect is a ''hybr id gene'' in which 11 beta-hydroxylase gene regulatory elements are fu sed to the coding region of the aldosterone synthase gene. The detecti on of this hybrid gene by Southern blotting is time consuming and invo lves the use of radioactive isotopes. We describe a new, long polymera se chain reaction-based method for detecting the hybrid gene which gre atly reduces the time required to obtain a result, avoids exposure of laboratory workers to radioactive materials, and will thereby facilita te the screening of patients for the presence of FH-I. (C) 1995 Academ ic Press, Inc.