Journal of Clinical Endocrinology & Metabolism, Vol 77, 596-598, Copyright © 1993 by Endocrine Society

ARTICLES

Detection of a novel arginine vasopressin defect by dideoxy fingerprinting

MR Krishnamani, JA Phillips 3d and KC Copeland
Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232-2578.

Autosomal dominant neurohypophyseal diabetes insipidus is a familial form of diabetes insipidus. This disorder is associated with variable levels of arginine vasopressin (AVP) and diabetes insipidus of varying severity, which responds to exogenous AVP. To determine the molecular basis of autosomal dominant neurohypophyseal diabetes insipidus, the AVP genes of members of a large kindred were analyzed. A new method, called dideoxy fingerprinting, was used to detect an AVP mutation that was characterized by DNA sequencing. The novel defect found changes the last codon of the AVP signal peptide from alanine to threonine, which should perturb cleavage of mature AVP from its precursor protein and inhibit its secretion or action.

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