A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22)

Lafferty, Antony R., Torpy, David J., Stowasser, Michael, Taymans, Susan E., Lin, Jing Ping, Huggard, Philip, Gordon, Richard D. and Stratakis, Constantine A. (2000) A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22). Journal of Medical Genetics, 37 11: 831-835. doi:10.1136/jmg.37.11.831


Author Lafferty, Antony R.
Torpy, David J.
Stowasser, Michael
Taymans, Susan E.
Lin, Jing Ping
Huggard, Philip
Gordon, Richard D.
Stratakis, Constantine A.
Title A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22)
Journal name Journal of Medical Genetics   Check publisher's open access policy
ISSN 0022-2593
Publication date 2000-01-01
Year available 2000
Sub-type Article (original research)
DOI 10.1136/jmg.37.11.831
Open Access Status DOI
Volume 37
Issue 11
Start page 831
End page 835
Total pages 5
Place of publication London, England
Publisher B M J Publishing
Language eng
Subject C1
321004 Endocrinology
730105 Endocrine organs and diseases (incl. diabetes)
Abstract Familial hyperaldosteronism type II (FH-II) is caused by adrenocortical hyperplasia or aldosteronoma or both and is frequently transmitted in an autosomal dominant fashion. Unlike FH type I (FI-I-I), which results from fusion of the CYP11B1 and CYP11B2 genes, hyperaldosteronism in FH-II is not glucocorticoid remediable. A large family with FH-II was used for a genome wide search and its members were evaluated by measuring the aldosterone:renin ratio. In those with an increased ratio, FH-II was confirmed by fludrocortisone suppression testing. After excluding most of the genome, genetic linkage was identified with a maximum two point lod score of 3.26 at theta =0, between FH-II in this family and the polymorphic markers D7S511, D7S517, and GATA24F03 on chromosome 7,a region that corresponds to cytogenetic band 7p22. This is the first identified locus for FH-II; its molecular elucidation may provide further insight into the aetiology of primary aldosteronism.
Keyword Genetics & Heredity
Chromosome 7
Aldosterone
Familial Hyperaldosteronism Type Ii
Hypertension
Primary Aldosteronism
Steroid 11-beta-hydroxylase
Linkage Analysis
Physical Map
Cyp11b2 Gene
Human Genome
Synthase
Biosynthesis
Mutations
P450c11as
Q-Index Code C1
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
 
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Created: Mon, 13 Aug 2007, 22:03:14 EST