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

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 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.

• Authors: Silvia Galbiati, Barbara Foglieni, Maurizio Travi, Cristina Curcio, Gabriella Restagno, Luca Sbaiz, Maddalena Smid, Federica Pasi, Augusto Ferrari, Maurizio Ferrari, Laura Cremonesi
• Journal: Haematologica (Haematologica) Vol. 93 Issue 4 Pg. 610-4 (Apr 2008) ISSN: 1592-8721 [Electronic] Italy
• PMID: 18326525 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Validation Study)

Chemical References

• Peptide Nucleic Acids

Topics

• Adult
• Alleles
• Chorionic Villi Sampling
• Electrophoresis, Microchip
• Female
• Fetal Diseases (diagnosis, genetics)
• Fetomaternal Transfusion
• Humans
• Male
• Peptide Nucleic Acids (pharmacology)
• Polymerase Chain Reaction (instrumentation, methods)
• Pregnancy
• Prenatal Diagnosis (methods)
• Sequence Analysis, DNA
• beta-Thalassemia (diagnosis, embryology, genetics)