Kędzia Andrzej, Durzyńska Julia, Gabryelczyk Bartosz, Petriczko Elżbieta, Goździcka-Józefiak Anna
Department of Clinical Auxology and Pediatrics Nursing, Poznań University of Medical Sciences, Poland.
Pediatr Endocrinol Diabetes Metab. 2013;19(3):96-9.
Growth disorders in children are multifactor, complex processes with often unknown etiology. The insulin-like growth factor-I (IGF-I) is one of the proteins participating in the transfer of growth signals, which are responsible in certain cases for the etiology of a growth disorder.
The aim of the study was an analysis of the coding sequence of the extracellular and intracellular domains of IGF-IR responsible for ligand binding (IGF-I) and kinase activity in the DNA of children with growth disorders, who have normal or slightly decreased levels of plasma IGF-I.
DNA isolated from the peripheral blood of 50 short-statured children was used as study material. DNA fragments of IGF-IR obtained as a result of PCR amplification were analyzed using single stranded conformation polymorphism (SSCP) and sequencing.
We did not observe any changes in the IGF-IR sequences, thus it can be excluded as a factor responsible for growth disorders.
IGF-I receptor sequence changes are not the cause of growth disorders in the study group of children. To find the cause of growth disorders in the study group other proteins from somatotropic axis and/or signaling pathways should be studied in the future.
儿童生长障碍是多因素、复杂的过程，病因往往不明。胰岛素样生长因子-I（IGF-I）是参与生长信号传递的蛋白质之一，在某些情况下与生长障碍的病因有关。
本研究旨在分析生长障碍儿童（血浆IGF-I水平正常或略有降低）DNA中负责配体结合（IGF-I）和激酶活性的IGF-IR细胞外和细胞内结构域的编码序列。
以从50名身材矮小儿童外周血中分离的DNA作为研究材料。采用单链构象多态性（SSCP）和测序方法分析PCR扩增得到的IGF-IR DNA片段。
我们未观察到IGF-IR序列有任何变化，因此可以排除其作为生长障碍相关因素。
IGF-I受体序列变化不是该研究组儿童生长障碍的原因。未来为找到该研究组儿童生长障碍的病因，应研究生长激素轴和/或信号通路中的其他蛋白质。
