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 theTBCE 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 (l ess than one hour) to be used in prenatal and preimplantation genetic diagnosis (PGD) settings.

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