CAJ | 학술논문

随着促生长激素释放激素-生长激素-胰岛素样生长因子(GHRH-GH-IGF-1)轴和基因学研究的深入,生长激素受体基因(GHR基因)的突变及其核苷酸多态性与特发性矮小(ISS)的关系逐渐明了.GHR基因异常多发生在生长激素受体(GHR)蛋白的胞外区,可引起细胞内信号转导障碍,导致GHR蛋白功能及表达部分缺失,生长激素不能完全发挥作用或部分不敏感,从而可能发生ISS; GHR基因单核苷酸多态性(SNP),尤其是外显子Ex3多态性与ISS易感性有关.此外,GHR基因异常及SNP与ISS中IGF-1、生长激素结合蛋白血清水平及重组人生长激素治疗效果密切相关.深入研究ISS中GHR候选基因的筛查、蛋白功能表达及SNP分析,有利于提高ISS的遗传诊断水平,对明确ISS的病因及指导临床治疗具有重要意义.
수착촉생장격소석방격소-생장격소-이도소양생장인자(GHRH-GH-IGF-1)축화기인학연구적심입,생장격소수체기인(GHR기인)적돌변급기핵감산다태성여특발성왜소(ISS)적관계축점명료.GHR기인이상다발생재생장격소수체(GHR)단백적포외구,가인기세포내신호전도장애,도치GHR단백공능급표체부분결실,생장격소불능완전발휘작용혹부분불민감,종이가능발생ISS; GHR기인단핵감산다태성(SNP),우기시외현자Ex3다태성여ISS역감성유관.차외,GHR기인이상급SNP여ISS중IGF-1、생장격소결합단백혈청수평급중조인생장격소치료효과밀절상관.심입연구ISS중GHR후선기인적사사、단백공능표체급SNP분석,유리우제고ISS적유전진단수평,대명학ISS적병인급지도림상치료구유중요의의.
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.