摘要
生长激素受体(GHR)与生长激素结合,介导其在人体细胞内的信号转导,影响生长激素释放激素-生长激素-胰岛素样生长因子内分泌轴的功能,对软骨的发育起重要作用。同时,GHR基因变异与特发性矮小的发生密切相关。GHR基因的单核苷酸多态性(SNP)广泛存在于普通人群及特发性矮小人群中,不同SNP位点对GHR功能影响不同,GHR SNP与部分特发性矮小的发生密切相关。因此,GHR SNP可能是影响血浆胰岛素样生长因子-1(IGF-1)水平及部分特发性矮小发生的重要因素。
GH binding to its receptor （GHR） initiates intracellular signal transduetien and then affects the function of endocrine axis（GHRIt-GH-IGF-1 ）, and plays an important role in the development of the cartilage. At the same time, GHR genovariatien is closely correlated with ISS. AUthough SNPs of GHR widely exists in common every one and patients with ISS, different SNP situs has different influence on the function of GHR, and SNP of GHR has close relationship with the genesis of partal patients with ISS. So, SNP of GHR maybe the important factor in affecting the leVel of IGF-1 and partial patients with ISS.
出处
《医学综述》
2007年第11期833-835,共3页
Medical Recapitulate
关键词
生长激素受体
单核苷酸多态性
特发性矮小
基因表达
Growth hormone receptor
Single nucleotide polymorphism
Idiopathic short stature
Gene expression
