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: 6309711
• 负责人: MICHAEL P WAJNRAJCH
• 金额: $ 12.81万
• 依托单位: WEILL MEDICAL COLL OF CORNELL UNIV
• 依托单位国家: 美国
• 财政年份: 1999
• 资助国家: 美国
• 起止时间: 1999-12-01 至 2000-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6309711
• 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 failure 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 exploited for mutation analysis.

生长激素缺乏症（GHD）和分泌不足是生长障碍和严重矮小的主要原因。 虽然中枢神经系统功能障碍占大多数情况下的生长激素缺乏症，特定的遗传缺陷生长激素分泌装置也可以负责，特别是当生长激素缺乏症发生在家庭。 我们将通过适当的内分泌筛查研究确定受影响个体的样本库，检测与GHRHR和其他候选基因的相关性，鉴定最可能具有表型显著突变的人GHRHR基因区域，然后筛选此类突变，我们将检查白细胞mRNA中GHRHR基因的低水平转录，这可用于突变分析。