Detection of a novel arginine vasopressin defect by dideoxy fingerprinting.
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.
Krishnamani
M R
MR
Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232-2578.
Phillips
J A
JA
Copeland
K C
KC
D001127:Arginine Vasopressin / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000737:chemistry; D016172:DNA Fingerprinting; D003919:Diabetes Insipidus / Q000235:genetics*; D015224:Dideoxynucleosides; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
D015224:Dideoxynucleosides; D001127:Arginine Vasopressin; D004247:DNA