[Tri-primer-florescence PCR-Sanger sequencing method for screening of full and pre-mutations of FMR1 gene].

Objective To screen for CGG repeats in the FMR1 gene among patients with fragile X syndrome and carriers of pre-mutations. Methods Potential full and pre-mutations of the FMR1 gene were detected with a Tri-primer-florescence PCR-Sanger sequencing method. The results were validated with positive and negative controls. Results All positive and negative controls were confirmed. A male patient was found to have > 200 CGG repeats (full mutation). For a pregnant women who was heterozygous for 35/115 CGG repeats, > 200 CGG repeats were also found with amniotic fluid sample from her fetus who was a male. The result was confirmed by following selective abortion with informed consent. Conclusion Tri-primer-florescence PCR-Sanger sequencing is a simple, effective and reliable method for routine screening of patients/carriers with full/pre-mutations of the FMR1 gene in the population. Key words: Fragile X syndrome; Tri-primer florescence PCR-Sanger sequencing; FMR1 gene; Pre-mutation; Full mutation