A new genetic test for familial hyperaldosteronism type I AIDS in the detection of curable hypertension

Jonsson, J. R., Klemm, S. A., Tunny, T. J., Stowasser, M. and Gordon, R. D. (1995) A new genetic test for familial hyperaldosteronism type I AIDS in the detection of curable hypertension. Biochemical and Biophysical Research Communications, 207 2: 565-571. doi:10.1006/bbrc.1995.1225


Author Jonsson, J. R.
Klemm, S. A.
Tunny, T. J.
Stowasser, M.
Gordon, R. D.
Title A new genetic test for familial hyperaldosteronism type I AIDS in the detection of curable hypertension
Journal name Biochemical and Biophysical Research Communications   Check publisher's open access policy
ISSN 0006-291X
Publication date 1995-02
Sub-type Article (original research)
DOI 10.1006/bbrc.1995.1225
Volume 207
Issue 2
Start page 565
End page 571
Total pages 7
Place of publication Maryland Heights, MO, United States
Publisher Academic Press
Language eng
Formatted 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 11β-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.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
 
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Created: Wed, 09 Mar 2011, 08:38:53 EST