New Assay of Detecting Common Mutation Causing Sanjad-Sakati Syndrome Using Real-Time Fluorescence PCR and Melting Curve Analysis

Sanjad-Sakati Syndrome (SSS) is an autosomal recessive disorder reported mainly in Middle Eastern populations. The mutation c.155_166del in exon 3 of the TBCE gene is the most common cause of SSS in the population. Each double stranded DNA product has a specific melting temperature (Tm) at which50% of the DNA is single stranded. By using melting curve analysis we present a new assay for rapid genotyping of SSS (less than one hour) to be used in prenatal and preimplantation genetic diagnosis (PGD) settings.