ROLE OF GROWTH HORMONE RELEASING FACTOR IN SHORT STATURE

生长激素释放因子在身材矮小中的作用

• 批准号: 6282584
• 负责人: MICHAEL P WAJNRAJCH
• 金额: $ 6.94万
• 依托单位: WEILL MEDICAL COLL OF CORNELL UNIV
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-01-06 至 1998-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6282584
• 关键词: body height; clinical research; endocrine disorder diagnosis; family genetics; gene mutation; growth hormone releasing hormone; hormone regulation /control mechanism; human subject; pituitary dwarfism

Growth hormone deficiency (GHD) and secretory insufficiency are major causes of growth faillure and consequent severe short stature. While central nervous system dysfunction accounts for most cases of GHD, specific genetic defects in the GH secretory apparatus can also be responsible, especially when GHD occurs in families. We will define a pool of affected individuals by appropriate endocrine screening studies, test for association with GHRHR and other candiate genes, identify regions of the human GHRHR gene most likely to have phenotypically significant mutations and then screen for such mutations and we will examine leukocyte mRNA for low level transcription of GHRHR gene which could be sxploited for mutation analysis.

生长激素缺乏(GHD)和分泌不足是主要的 生长不良和随之而来的严重矮小的原因。而当 中枢神经系统功能障碍是大多数GHD病例的特殊原因 生长激素分泌器官中的遗传缺陷也可能是原因， 尤其是当GHD发生在家庭中时。我们将定义一个受影响的池 个体通过适当的内分泌筛查研究，测试 与GHRHR和其他候选基因的关联，识别 人类GHRHR基因最有可能有明显的表型突变 然后筛查这种突变，我们将检查白细胞的mRNAs GHRHR基因低水平转录，可用于突变研究 分析。