ROLE OF GROWTH HORMONE RELEASING FACTOR IN SHORT STATURE

生长激素缺乏症（GHD）和分泌不足是主要的 生长障碍的原因和随之而来的严重矮小。 而 中枢神经系统功能障碍占GHD的大多数情况下，具体 GH分泌器中的遗传缺陷也可能是原因， 特别是当GHD发生在家庭中时。 我们将定义一个受影响的池 通过适当的内分泌筛查研究，检测 与GHRHR和其他候选基因的关联，确定 最可能具有表型显著突变的人GHRHR基因 然后筛选这些突变，我们将检测白细胞mRNA， GHRHR基因低水平转录，可用于突变 分析.

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.