Background: Achondroplasia is the most common inherited skeletal dysplasia caused by the G1138A (98%) mutation in the FGFR3 gene. Detection of the mutation can be done by several methods such as DNA sequencing or restriction enzyme-based polymerase chain reaction (PCR).

Objective: We developed an allele-specific PCR (ASPCR) technique for the detection this mutation in the FGFR3 gene that is more convenient, timesaving and cost effective than previous methods.

Materials and methods: Genomic DNA from 7 patients with a clinical diagnosis of achondroplasia was extracted. The samples were analyzed using the new ASPCR technique and compared with restriction enzyme-based PCR and DNA sequencing.

Results: The G1138A mutation in the FGFR3 gene was detected in all patients by the ASPCR technique, restriction enzyme-based PCR and DNA sequencing. However, the ASPCR technique had a shorter processing time and lower cost compared with the others. 

Conclusion: ASPCR is a more rapid and convenient technique that is more cost-effective than either DNA sequencing or restriction enzyme-based PCR techniques for the diagnosis of achondroplasia.