A Null mutation in the vasopressin V2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus in the Hopewell kindred |
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| Authors: | Holtzman, Eliezer J. Kolakowskl, Lee F., Jr. O'Brien, David Crawford, John D. Ausiello, Dennis A. |
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| Affiliation: | Renal Unit, (Medical Services), Massachusetts General Hospital and Department of Medicine, Harvard Medical School 149 13th Street, Charlestown, MA 02129 1Pediatnc Endocrine Unit, (Children's Services), Massachusetts General Hospital and Department of Pediatrics, Harvard Medical School Boston, MA 02114, USA |
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| Abstract: | Congenital nephrogenic diabetes insipidus (DIR) Is a rare X-linkedhereditary disorder in which the renal collecting duct Is unresponsiveto arginine vasopressin; thus, the urine is consistently hypotonicto plasma. Recently, the association between the V2 receptorgene (AVPR2) and DIR has been proven. We have determined thegene sequence of four family members, from three generations,of a large North American family with CNDI who were originallypart of the study used to formulate the Hopewell hypothesis.It had been proposed that a single DIR gene defect was Introducedto North America by a member of an Ulster Scot kindred arrivingon the ship Hopewell In 1761. DNA sequencing of the AVPR2 hasIdentified a single base transversion from G |
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