›› 2014, Vol. 32 ›› Issue (4): 384-387.

• Original Article • Previous Articles     Next Articles

FGFR3 gene mutation analysis of achondroplasia and hypochondroplasia families 

LI Lindi1,2, LAN Dan1,2, YANG Hu1,2, XU Tiantian1, LI Qiongyan1, GAO Zongyan1,2   

  1.  (1.Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning 530021, Guangxi, China; 2.Biological Targeting Diagnosis & Research Center of Guangxi Medical University, Nanning 530021, Guangxi, China)
  • Received:2013-11-09 Online:2014-04-15 Published:2014-04-15

Abstract:  Objective To screen the sequence of fibroblast growth factor receptor 3 (FGFR3) genes in children with dyschondroplasia and their family members for searching the mutations. Methods The sequence of exon 10 and exon 13 in mutation hot spot region of FGFR3 gene in seven families was analyzed using polymerase chain reaction (PCR) and DNA sequencing technology. Results The c.1138G>A missense mutation in exon 10 was found in 4 probands who were diagnosed as achondroplasia (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 mentioned 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.