Achondroplasia is a common form of human dwarfism with characteristically 
rhizomelic shortening of extremities and relative macrocephaly. It is 
transmitted as an autosomally dominant inheritance, and about 80% of affected 
individuals result from sporadic mutations without positive family histories. 
Achondroplasia comes from the genetic point mutations in the fibroblastic growth 
factor receptor 3 gene (FGFR3), which enables abnormal cartilage growth-plate 
differentiation and insufficient bony development. The most common genetic 
mutations in this receptor are G to A at position 1138 (G1138A), which result in 
the substitution of glycine to arginine at codon 380. Based on genetic 
information, molecular genetic testing can provide an exact diagnosis comparing 
to radiological and prenatal ultrasound evaluations. Here we introduce 
denaturing high-performance liquid chromatography (DHPLC) for the detection of 
17 cases of achondroplasia and 120 unaffected cases. After coupling heteroduplex 
and fluorescence-enhanced primer-extension analysis, all affected patients with 
G1138A were identified successfully. In conclusion, we demonstrated that DHPLC 
is an efficient, accurate, and sensitive technique to detect the single gene 
mutation of achondroplasia in clinical applications.