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Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of β -thalassemia

¹ Genomic Unit for the Diagnosis of Human Pathologies
⁴ Obstetrics and Gynecology, San Raffaele Scientific Institute, Milan
² Ospedale Maggiore Policlinico Mangiagalli Regina Elena, Milan
³ Department of Clinical Pathology, A.O.O.I.R.M. S. Anna, Torino
⁵ Università Vita-Salute San Raffaele, Milan
⁶ Diagnostica e Ricerca San Raffaele SpA, Milan, Italy

Correspondence: Laura Cremonesi, Genomic Unit for the Diagnosis of Human Pathologies, San Raffaele Scientific Institute, via Olgettina 60, 20132 Milan, Italy. E-mail: cremonesi.laura{at}hsr.it

ABSTRACT

The presence of fetal DNA in maternal plasma can be exploited to develop new procedures for non-invasive prenatal diagnosis. Tests to detect 7 frequent β -globin gene mutations in people of Mediterranean origin were applied to the analysis of maternal plasma in couples where parents carried different mutations. A mutant enrichment amplification protocol was optimized by using peptide nucleic acids (PNAs) to clamp maternal wild-type alleles. By this approach, 41 prenatal diagnoses were performed by microelectronic microchip analysis, with total concordance of results obtained on fetal DNA extracted from chorionic villi. Among these, 27/28 were also confirmed by direct sequencing and 4 by pyrosequencing.

Key words: non-invasive prenatal diagnosis, fetal DNA in maternal plasma, PNA-clamping.