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Research Article Open access CC BY 4.0

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

Mohamed H. Al-Hamed, Haya Al-Jurayb, Faiqa Imtiaz

Journal of Applied Life Sciences International · pp. 18–21 · Published 11 Oct 2014

10.9734/JALSI/2015/13103

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.  

Melting curve analysis real time PCR sanjad sakati syndrome TBCE mutation

References (9)

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