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Title: Investigation of the prevalence and genetic characterisation of patients with glucocorticoid remediable aldosteronism
Author: MacConnachie, Alisdair A.
ISNI:       0000 0001 3614 8881
Awarding Body: University of Aberdeen
Current Institution: University of Aberdeen
Date of Award: 1997
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After the elucidation of the underlying genetic cause in many Mendellian diseases molecular medicine has turned its attention to the more common polygenic disorders. High blood pressure is one such complex trait which has been the subject of much interest in recent years. A number of candidate loci have been found to different groups to influence blood pressure and have been implicated in the aetiology of essential hypertension although the most significant discoveries have been in the single gene causes of high blood pressure. Glucocorticoid remediable aldosteronism (GRA) is an autosomal dominant cause of high blood pressure and primary aldosteronism caused by a chimaeric 11- hydroxylase/aldosterone synthase gene. The presence of this chimaeric gene causes aldosterone to be produced in response to adrenocorticotrophic hormone (ACTH) which results in primary aldosteronism and hypertension. GRA is characterised by the normalisation of both blood pressure and serum biochemistry by the administration of dexamethasone. Following screening of 356 individuals from the hypertension clinic in Aberdeen we identified 5 families with the chimaeric gene characteristic of GRA. These patients were initially diagnosed on the basis of an RFLP for the restriction endonuclease BamHI. We show that a long PCR technique can be used reliably to identify patients with the chimaeric gene and that cloning and sequencing of the chimaeric long PCR product can identify the point of crossing over in these families. Members of each of the 5 kindreds were then tested for some of the other candidate gene polymorphisms implicated in the aetiology of essential hypertension to investigate the possibility that these variants could influence the level of blood pressure in GRA patients.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available
Keywords: Genetics Molecular biology Cytology Genetics Medicine