Progress of association between gene mutations, polymorphisms of growth hormone receptor and idiopathic short stature
10.3760/cma.j.issn.2095-428X.2014.20.002
- VernacularTitle:生长激素受体基因异常及多态性与特发性矮小的关系研究进展
- Author:
Pin LI
- Publication Type:Journal Article
- Keywords:
Growth hormone receptor;
Gene;
Single nucleotide polymorphism;
Idiopathic short stature
- From:
Chinese Journal of Applied Clinical Pediatrics
2014;29(20):1523-1525
- CountryChina
- Language:Chinese
-
Abstract:
With deeper studies on the endocrine axis of growth hormone-releasing hormone-growth hormone-insulin-like growth factor(GHRH-GH-IGF-1),the correlation between molecular analysis of the growth hormone receptor (GHR) gene,nucleoside acid polymorphism and idiopathic short stature(ISS) have been explored gradually.The GHR gene abnormalities often occurred in extracellular domain of GHR proteins,resulting in dysfunction of intracellular signal transduction of GHR.When the growth hormone couldn't play a role or be insensitive fully,the ISS happened.As reported,GHR single nucleotide polymorphisms(SNP),particularly the GHR-exon3 polymorphisms,have closely correlated with the susceptibility to ISS.GHR gene abnormalities and SNP often have been related to the levels of serum IGF-1 and growth hormone binding protein,and the response of recombinant human growth hormone therapy.The screening candidate genes like GHR gene in ISS,the expression of functional protein and analysis of SNP can improve level of genetic diagnosis,and would be important for clearing the etiology and regulating the clinical treatment of ISS.
