Detection of the G1138A Mutation in the FGFR3 Gene for the Diagnosis of Achondroplasia by Allele-Specific Polymerase Chain Reaction
Imtawil K, MSc1, Muisook K, PhD2, Namwat N, PhD1, Loilome W, PhD1, Tangrassameeprasert R, MSc1, Wichajarn K, MD3
Affiliation : 1 Department of Biochemistry, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand 2 Department of Forensic Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand 3 Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand
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.
Keywords : FGFR3, G1138A, Achondroplasia, Allele-specific PCR
