ROLE OF GROWTH HORMONE RELEASING FACTOR IN SHORT STATURE

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来定义一组受影响的个体，测试与GHRHR和其他候选基因的关联，鉴定人类GHRHR基因中最有可能具有表型显着突变的区域，然后筛查此类突变，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。

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.