FGFR3 gene mutation analysis of achondroplasia and hypochondroplasia families / 临床儿科杂志
Journal of Clinical Pediatrics
; (12): 384-387, 2014.
Artículo
en Chino
| WPRIM (Pacífico Occidental)
| ID: wpr-448464
Biblioteca responsable:
WPRO
ABSTRACT
Objective To screen the sequence of fibroblast growth factor receptor 3 (FGFR3) genes in children with dys-chondroplasia and their family members for searching the mutations. Methods The sequence of exon 10 and exon 13 in muta-tion hot spot region of FGFR3 gene in seven families was analyzed using polymerase chain reaction (PCR) and DNA sequenc-ing technology. Results The c.1138G>A missense mutation in exon 10 was found in 4 probands who were diagnosed as achon-droplasia (ACH), while this mutation was absent in their parents. The c.1620C>A missense mutation in exon 13 was found in one girl and her mother who both were diagnosed as hypochondroplasia (HCH) with mild symptoms. Neither mutation men-tioned above was found in the other two probands. Conclusions Through detecting the mutation in exon 10, exon 13 of FGFR3 gene, most patients of ACH or HCH can be finally diagnosed. However, it is necessary to perform the mutation screening on the other zones of FGFR3 gene and on other related genes for a few cases.
Texto completo:
Disponible
Base de datos:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Journal of Clinical Pediatrics
Año:
2014
Tipo del documento:
Artículo