[Mutations of the fibroblast growth factor receptor 3 gene in achondroplasia].

OBJECTIVE

To evaluate whether mutation in the exon 10 of the fibroblast growth factor receptor 3(FGFR3) gene in common in Chinese patients with achondroplasia.

METHODS

Genomic DNA from seven sporadic cases of achondroplasia was studied by using PCR-SSCP and restriction enzymes.

RESULTS

All patients carried the same glycine-to-arginine mutation at codon 380(G380R) of the transmembrane domain of FGFR3.

CONCLUSION

The results suggest that the G380R mutation of FGFR3 is also a frequent mutation causing achondroplasia in Chinese. Detecting FGFR 3 gene mutation with PCR-SSCP and restriction enzymes analysis is a convenient, rapid and reliable molecular diagnostic assay for prenatal and early diagnosis of achondroplasia.