ROLE OF GROWTH HORMONE RELEASING FACTOR IN SHORT STATURE

生长激素缺乏（GHD）和分泌不足是生长障碍和随之而来的严重身材矮小的主要原因。 虽然中枢神经系统功能障碍是大多数 GHD 病例的原因，但 GH 分泌装置的特定遗传缺陷也可能是原因，特别是当 GHD 发生在家庭中时。 我们将通过适当的内分泌筛查研究确定受影响的个体库，测试与 GHRHR 和其他候选基因的关联，识别人类 GHRHR 基因最有可能具有表型显着突变的区域，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，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.