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

2008; Ferrata Storti Foundation; Volume: 93; Issue: 4 Linguagem: Inglês

10.3324/haematol.11895

1592-8721

Silvia Galbiati, Barbara Foglieni, M. Travi, Cristina Curcio, Gabriella Restagno, Luca Sbaiz, Marek Šmíd, Federica Pasi, A. Ferrari, Maurizio Ferrari, Laura Cremonesi,

Hemoglobinopathies and Related Disorders

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 beta-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.