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Noninvasive Prenatal Diagnostic Assay for the Detection of β-Thalassemia


Address for correspondence: Thessalia Papasavva, Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology and Genetics, 6, International Airport, 1683 Nicosia, Cyprus. Voice: +357-22-392664; fax: +357-22-392615.


Abstract: The development of a noninvasive method for detection of β-thalassemia in the population of Cyprus is based on the detection of paternally inherited single nucleotide polymorphisms (SNPs) as well as β-thalassemia (β-thal) mutations. We selected 11 informative SNPs for the Cypriot population linked to the β-globin locus. Two different approaches were used: allele-specific polymerase chain reaction (AS-PCR) and the arrayed primer extension (APEX) method. The AS-PCR approach is being standardized, and the method was applied in two families. The paternally inherited allele was noninvasively detected with the AS-PCR approach on maternal plasma. Some preliminary tests were performed with the APEX method on genomic DNA of parents carrying the β-thal mutation.