ROLE OF GROWTH HORMONE RELEASING FACTOR IN SHORT STATURE

生长激素缺乏(GHD)和分泌不足是导致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是大多数GHD的原因，但GH分泌器中的特定遗传缺陷也可能是原因之一，特别是当GHD发生在家族中时。我们将通过适当的内分泌筛查研究确定受影响个体的池，测试与GHRHR和其他候选基因的关联，确定人类GHRHR基因最有可能发生显著突变的区域，然后筛查此类突变，我们将检测白细胞中GHRHR基因的低水平转录，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.