J Korean Soc Endocrinol.  1996 Dec;11(4):500-509.

A Study of Point Mutations of Human Insulin-like Growth Factor - 1 (IGF - 1) Promoter Gene in Familial Short Stature (FSS) Patients

• Yang IM
• Woo JT
• Kim SW
• Kim JW
• Kim YS
• Choi YK
• Chang HH
• Jung IK
• Park TK

Abstract

Background
FSS is a normal variants in Korea, but some of them had defect of noctumal GH pulse i.e. neurosecretory dysfunction. Although Korean children had strikingly got higher final height in the last decade. We are interested in what kinds of differences were existed in FSS group. Previous study showed theres no difference of GH related biochemical markers between normal and FSS group, like IGF-I, IGFBP-3 etc. We analyzed molecular difference in FSS group. Methods: We screened 23 FSS patients and 16 normal controls to IGF-I gene prornoter region with PCR-SSCP (single strand conformation polymorphisrn) method and sequenced 1 FSS patients who had abnormal SSCP band. Results: We found 1 out of 23 patients with abnormal SSCP band (none for 16 controls). Their IGF-I promoter gene were sequenced with modified Maxam-Gilbert method. One subject had 2 point mutations(+8 and +74). Conclusion: We found point mutations of IGF-I promoter in FSS group, This position was regarded as HNF(hepatic nuclear factor)-3 binding sites. We needed more study for the detection of its biological function according io linear growth with in vivo and in vitro study.

MeSH Terms

Binding Sites
Biomarkers
Child
Humans*
In Vitro Techniques
Insulin-Like Growth Factor Binding Protein 3
Insulin-Like Growth Factor I
Jupiter
Korea
Methods
Point Mutation*
Polymorphism, Single-Stranded Conformational
Biomarkers
Insulin-Like Growth Factor Binding Protein 3
Insulin-Like Growth Factor I