Abstract:Abstract:?Objective?To establish a genotyping method for Citrin deficiency based on real-time fluorescence PCR melting curve technique.Methods?Specific primers and probes for the common mutations of?SLC25A13?gene, c.851-854delGTAT, c.1638-1660dup23 and IVS6+5G>A, were designed, and then a rapid genotyping method for Citrin deficiency was developed based on fluorescence PCR melting curve technique.The sensitivity and specificity of this method were also evaluated by the detection of 40 genotype-known blood spot samples.Results?For the specific melting Tm values of mutant and wild type of each target site, the melting curves were intuitive and easy to interpretation.The results of the 40 blind samples were consistent with the target genotypes.The sensitivity and specificity were 100%.Conclusion?A rapid genotyping method for Citrin deficiency was established.It is simple, practical, accurate and stable, so it could be used for routine molecular diagnosis of Citrin deficiency and molecular screening?SLC25A13?gene in population.