Jr. Jonsson et al., A NEW GENETIC TEST FOR FAMILIAL HYPERALDOSTERONISM TYPE-I AIDS IN THEDETECTION OF CURABLE HYPERTENSION, Biochemical and biophysical research communications, 207(2), 1995, pp. 565-571
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.