New Assay of Detecting Common Mutation Causing Sanjad-Sakati Syndrome Using Real-Time Fluorescence PCR and Melting Curve Analysis
Mohamed H. Al-Hamed *
Department of Genetics, Saudi Diagnostics Laboratory (SDL), King Faisal Specialist Hospital and Research Centre, P.O.Box 3354, Riyadh 11211, Saudi Arabia
Haya Al-Jurayb
Department of Genetics, Saudi Diagnostics Laboratory (SDL), King Faisal Specialist Hospital and Research Centre, P.O.Box 3354, Riyadh 11211, Saudi Arabia
Faiqa Imtiaz
Department of Genetics, Saudi Diagnostics Laboratory (SDL), King Faisal Specialist Hospital and Research Centre, P.O.Box 3354, Riyadh 11211, Saudi Arabia
*Author to whom correspondence should be addressed.
Abstract
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.
Keywords: Melting curve analysis, real time PCR, sanjad sakati syndrome, TBCE mutation