Noninvasive prenatal diagnostic assay for the detection of beta-thalassemia. Papasavva, T., Kalakoutis, G., Kalikas, I., Neokli, E., Papacharalambous, S., Kyrri, A., & Kleanthous, M. Annals of the New York Academy of Sciences, 1075:148–153, September, 2006. Place: United Statesdoi abstract bibtex 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.
@article{papasavva_noninvasive_2006,
title = {Noninvasive prenatal diagnostic assay for the detection of beta-thalassemia.},
volume = {1075},
issn = {0077-8923},
doi = {10.1196/annals.1368.020},
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.},
language = {eng},
journal = {Annals of the New York Academy of Sciences},
author = {Papasavva, Thessalia and Kalakoutis, Gabriel and Kalikas, Ioannis and Neokli, Electra and Papacharalambous, Soteroula and Kyrri, Andreanni and Kleanthous, Marina},
month = sep,
year = {2006},
pmid = {17108205},
note = {Place: United States},
keywords = {*Polymorphism, Single Nucleotide, *beta-Thalassemia/diagnosis/genetics, Alleles, Cyprus, Female, Humans, Infant, Newborn, Male, Pedigree, Polymerase Chain Reaction/*methods, Pregnancy, Prenatal Diagnosis/*methods, Sensitivity and Specificity},
pages = {148--153},
}
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