【佳学基因检测】AVP分子诊断应该包括多少位点

基因检测的序列名称：

AVP

人体基因序列变化与疾病表征数据库中的基因代码：

551

人体基因序列数据库中国际交流名称全称

arginine vasopressin

中国数据库中基因全称：

精氨酸加压素

基因检测报告英文版基因简介

This gene encodes a member of the vasopressin/oxytocin family and preproprotein that is proteolytically processed to generate multiple protein products. These products include the neuropeptide hormone arginine vasopressin, and two other peptides, neurophysin 2 and copeptin. Arginine vasopressin is a posterior pituitary hormone that is synthesized in the supraoptic nucleus and paraventricular nucleus of the hypothalamus. Along with its carrier protein, neurophysin 2, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis where it is either stored or secreted into the bloodstream. The precursor is thought to be activated while it is being transported along the axon to the posterior pituitary. Arginine vasopressin acts as a growth factor by enhancing pH regulation through acid-base transport systems. It has a direct antidiuretic action on the kidney, and also causes vasoconstriction of the peripheral vessels. This hormone can contract smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. Mutations in this gene cause autosomal dominant neurohypophyseal diabetes insipidus (ADNDI). This gene is present in a gene cluster with the related gene oxytocin on chromosome 20. [provided by RefSeq, Nov 2015]

基因突变所影响的基因信息

该基因编码血管加压素/催产素家族的成员和前蛋白原，该蛋白经过蛋白水解处理以产生多种蛋白产物。这些产品包括神经肽激素精氨酸加压素和其他两种肽，神经素2和肽素。精氨酸加压素是一种垂体后叶激素，在下丘脑的视上核和室旁核中合成。连同其载体蛋白神经物理蛋白2一起，它被包装到神经分泌小泡中，并轴突运输到神经垂体的神经末梢，在神经末梢被存储或分泌到血液中。认为前体在沿着轴突运输到垂体后叶时被激活。精氨酸加压素通过通过酸碱转运系统增强pH调节来充当生长因子。它对肾脏有直接的利尿作用，并引起周围血管的血管收缩。这种激素ು୔

国际国内该碱基基因序列的其他英语文字母简称：

ADH, ARVP-NPII, AVRP, VP, AVP

基因解码对该基因序列在细胞核中的染色体所给予的编号：

该基因序列位于人类第20号染色体上。

基因解码对基因序列的精准定位

该基因序列在GRCh37版本中的起始位置坐标为：3063202；结束位置坐标为：3065370。该基因序列在GRCh38版本中的起始位置坐标为：3082555；结束位置坐标为：3093521。精准的基因信息定位是基因检测和对检测结果进行准确解读的关键。