与肾性尿崩症相关的加压素2型受体基因（AVPR2）突变。
Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus.
作者信息
van den Ouweland A M, Dreesen J C, Verdijk M, Knoers N V, Monnens L A, Rocchi M, van Oost B A
机构信息
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
出版信息
Nat Genet. 1992 Oct;2(2):99-102. doi: 10.1038/ng1092-99.
Nephrogenic diabetes insipidus (DIR) is an X-linked disorder characterized by insensitivity of the distal nephron for the pituitary hormone, vasopressin. The genetic map location of the DIR gene on chromosome Xq28 coincides with the physical map location of the functional vasopressin renal V2-type receptor. Recently, the human and rat cDNAs for the vasopressin V2 receptor (AVPR2) have been identified. We show here that the structural AVPR2 gene is localized between DXS52 and G6PD, which is within the genetic map location of DIR. We also tested eight X-linked DIR probands and their families for mutations in one of the most conserved extracellular regions of AVPR2: in three of them, we have identified point mutations resulting in non-conservative amino acid substitutions which cosegregated with DIR in all families.
肾性尿崩症（DIR）是一种X连锁疾病，其特征为远端肾单位对垂体激素抗利尿激素不敏感。DIR基因在X染色体q28上的遗传图谱定位与功能性抗利尿激素肾脏V2型受体的物理图谱定位一致。最近，已鉴定出抗利尿激素V2受体（AVPR2）的人类和大鼠cDNA。我们在此表明，结构性AVPR2基因定位于DXS52和G6PD之间，这在DIR的遗传图谱定位范围内。我们还检测了8个X连锁DIR先证者及其家系中AVPR2最保守的细胞外区域之一的突变：在其中3个家系中，我们鉴定出导致非保守氨基酸取代的点突变，这些突变在所有家系中均与DIR共分离。
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