Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Steroid 11-beta-Hydroxylase

Mutationen dieses wichtigen Enzyms der Steroidhormonsynthese führen zur hypertensiven Form der adrenalen Hyperplasie. Eine seltene an diesem Locus entdeckte Genveränderung bedingt eine mit Glukokortikoiden behandelbare Form des Hypertonus.

Genetests:

Clinic Method Familienuntersuchung
Turnaround 5
Specimen type genomic DNA
Clinic Method Multiplex ligationsabhängige Amplifikation
Turnaround 20
Specimen type genomic DNA
Clinic Method Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Turnaround 20
Specimen type genomic DNA
Clinic Method Hochdurchsatz-Sequenzierung
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Hyperaldosteronismus Typ 1
CYP11B1
CYP11B2

References:

1.

Mulatero P et al. (2004) Genetics of primary aldosteronism.

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2.

Lifton RP et al. (1992) A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension.

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3.

White PC et al. (1991) A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.

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