Direct genetic test for glucocorticoid-remediable aldosteronism

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

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435 912, C12Q 168, C12P 1934

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active

055299008

ABSTRACT:
A method of screening for glucocorticoid remediable aldosteronism (GRA) in a mammal by detecting the presence or absence of a chimaeric gene duplication resulting from unequal crossing over of the 11, .beta.-hydroxylase and aldosterone synthase genes, or the product encoded by the chimaeric gene duplication. Presence of the chimaeric gene duplication or its encoded product is indicative of a mammal afflicted with GRA and absence of the chimaeric gene duplication or its product is indicative of a mammal not afflicted with GRA.

REFERENCES:
Ulick, S., et al., "Biosynthesis of 18-Oxocortisol by Aldosterone-producing Adrenal Tissue," The Journal of Biological Chemistry 258(9):5498-5502 (1983).
Chu, M. D., et al., "Isolation and Identification of 18-Hydroxycortisol from the Urine of Patients with Primary Aldosteronism," The Journal of Biological Chemistry 257(5):2218-2224 (1982).
Ogishima, T., et al., "Aldosterone Synthase Cytochrome P-450 Expressed in the Adrenals of Patients with Primary Aldosteronism," The Journal of Biological Chemistry 266(18):10731-10734 (1991).
White, P. C., et al., "Characterization of frequent deletions causing steroid 21-hydroxylase deficiency," Proc. Natl. Acad. Sci. USA 85:4436-4440 (1988).
Chua, S. C., et al., "Cloning of cDNA encoding steroid 11.beta.-hydroxylase (P450c11)," Proc. Natl. Acad. Sci. USA 84:7193-7197 (1987).
Gomez-Sanchez, C. E., et al., "Elevated Urinary Excretion of 18-Oxocortisol in Glucocorticoid-Suppressible Aldosteronism," Journal of Clinical Endocrinology and Metabolism 59:1022-1024 (1984).
Ulick, S., et al., "Defective Fasciculata Zone Function as the Mechanism of Glucocorticoid-Remediable Aldosteronism," Journal of Clinical Endocrinology and Metabolism 71(5):1151-1157 (1990).
Ulick, S., et al., "Measurement of 4 Urinary C-18 Oxygenated Corticosteroids by Stable Isotope Dilution Mass Fragmentography," J. Steroid Biochem. Molec. Biol. 38(1):59-66 (1991).
Curnow, K. M., et al., "The Product of the CYP11B2 Gene is Required for Aldosterone Biosynthesis in the Human Adrenal Cortex," Mol. Endo. 5(10):1513-1522 (1991).
Pascoe, L., et al., "Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2," Proc. Natl. Acad. Sci. USA 89:8327-8331 (1992).
Ganguly, A., "Glucocorticoid-Suppressible Hyperaldosteronism: An Update," Am. Jour. of Med. 88:321-324 (1990).
Lifton, R. P. et al., "A chimaeric 11 .beta.-hydroxylase/aldosterone synthase gene causes glucocorticoid-rememdiable aldosteronism and human hypertension," Nature, 355:262-265 (1992).
Lifton, R. P. et al., "Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase," Nature Genetics, 2:66-74 (1992).

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