Haematologica
HOME HELP FEEDBACK TABLE OF CONTENTS ARCHIVE SUBSCRIPTIONS
QUICK SEARCH:   [advanced]


     

Published online 6 March 2008
Haematologica, Vol 93, Issue 4, 610-614 doi:10.3324/haematol.11895
Copyright © 2008 by Ferrata Storti Foundation
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Google Scholar
Right arrow Articles by Galbiati, S.
Right arrow Articles by Cremonesi, L.
PubMed
Right arrow PubMed Citation
Right arrow Articles by Galbiati, S.
Right arrow Articles by Cremonesi, L.

Thalassemia Syndrome

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

Silvia Galbiati1, Barbara Foglieni1, Maurizio Travi2, Cristina Curcio2, Gabriella Restagno3, Luca Sbaiz3, Maddalena Smid4, Federica Pasi4, Augusto Ferrari4,5, Maurizio Ferrari1,5,6, Laura Cremonesi1,6

1 Genomic Unit for the Diagnosis of Human Pathologies and
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 and
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

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.






HOME HELP FEEDBACK TABLE OF CONTENTS ARCHIVE SUBSCRIPTIONS
Copyright © 2008 by the Ferrata Storti Foundation.