title: Noninvasive prenatal diagnostic assay for the detection of beta-thalassemia.
abstract: The development of a noninvasive method for detection of beta-thalassemia in the population of Cyprus is based on the detection of paternally inherited single nucleotide polymorphisms (SNPs) as well as beta-thalassemia (beta-thal) mutations. We selected 11 informative SNPs for the Cypriot population linked to the beta-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 beta-thal mutation.
authors.affiliation: Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology and Genetics, International Airport, 1683 Nicosia, Cyprus. thesalia@cing.ac.cy
authors.forename: Thessalia
authors.initials: T
authors.lastname: Papasavva
authors.forename: Gabriel
authors.initials: G
authors.lastname: Kalakoutis
authors.forename: Ioannis
authors.initials: I
authors.lastname: Kalikas
authors.forename: Electra
authors.initials: E
authors.lastname: Neokli
authors.forename: Soteroula
authors.initials: S
authors.lastname: Papacharalambous
authors.forename: Andreanni
authors.initials: A
authors.lastname: Kyrri
authors.forename: Marina
authors.initials: M
authors.lastname: Kleanthous
mesh_terms: D000483:Alleles; D003535:Cyprus; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods*; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012680:Sensitivity and Specificity; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics