title: A new genetic test for familial hyperaldosteronism type I aids in the detection of curable hypertension.
abstract: In Familial Hyperaldosteronism Type I (FH-I, glucocorticoid-suppressible hyperaldosteronism), a curable form of hypertension inherited in an autosomal dominant fashion, the underlying genetic defect is a "hybrid gene" in which 11 beta-hydroxylase gene regulatory elements are fused to the coding region of the aldosterone synthase gene. The detection of this hybrid gene by Southern blotting is time consuming and involves the use of radioactive isotopes. We describe a new, long polymerase chain reaction-based method for detecting the hybrid gene which greatly reduces the time required to obtain a result, avoids exposure of laboratory workers to radioactive materials, and will thereby facilitate the screening of patients for the presence of FH-I.
authors.affiliation: Hypertension Unit, Greenslopes Hospital, Brisbane, Australia.
authors.forename: J R
authors.initials: JR
authors.lastname: Jonsson
authors.forename: S A
authors.initials: SA
authors.lastname: Klemm
authors.forename: T J
authors.initials: TJ
authors.lastname: Tunny
authors.forename: M
authors.initials: M
authors.lastname: Stowasser
authors.forename: R D
authors.initials: RD
authors.lastname: Gordon
mesh_terms: D001477:Bartter Syndrome; D001483:Base Sequence; D015139:Blotting, Southern; D019405:Cytochrome P-450 CYP11B2; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D017931:DNA Primers; D004587:Electrophoresis, Agar Gel; D005799:Genes, Dominant; D006801:Humans; D006824:Hybridization, Genetic; D006929:Hyperaldosteronism / Q000175:diagnosis* / Q000235:genetics*; D006973:Hypertension / Q000175:diagnosis* / Q000235:genetics*; D007962:Leukocytes / Q000201:enzymology; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000379:methods*; D012045:Regulatory Sequences, Nucleic Acid; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics
chemical_list: D017931:DNA Primers; D004247:DNA; D003577:Cytochrome P-450 Enzyme System; D019405:Cytochrome P-450 CYP11B2; D013252:Steroid 11-beta-Hydroxylase