A Study of Point Mutations of Human Insulin-like Growth Factor / 대한내분비학회지
Journal of Korean Society of Endocrinology
; : 500-509, 1996.
Article
en Ko
| WPRIM
| ID: wpr-765578
Biblioteca responsable:
WPRO
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.
Palabras clave
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Sitios de Unión
/
Técnicas In Vitro
/
Factor I del Crecimiento Similar a la Insulina
/
Biomarcadores
/
Mutación Puntual
/
Polimorfismo Conformacional Retorcido-Simple
/
Júpiter
/
Proteína 3 de Unión a Factor de Crecimiento Similar a la Insulina
/
Corea (Geográfico)
/
Métodos
Límite:
Child
/
Humans
País/Región como asunto:
Asia
Idioma:
Ko
Revista:
Journal of Korean Society of Endocrinology
Año:
1996
Tipo del documento:
Article