Article
Noninvasive prenatal diagnostic assay for the detection of beta-thalassemia.
Annals of the New York Academy of Sciences - 1 Sept 2006
Papasavva Thessalia, Kalakoutis Gabriel, Kalikas Ioannis, Neokli Electra, Papacharalambous Soteroula, Kyrri Andreanni, Kleanthous Marina
Abstract excerpt
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...
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