title: 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.affiliation: Genomic Unit for the Diagnosis of Human Pathologies, San Raffaele Scientific Institute, via Olgettina 60, 20132 Milan, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Galbiati
authors.forename: Barbara
authors.initials: B
authors.lastname: Foglieni
authors.forename: Maurizio
authors.initials: M
authors.lastname: Travi
authors.forename: Cristina
authors.initials: C
authors.lastname: Curcio
authors.forename: Gabriella
authors.initials: G
authors.lastname: Restagno
authors.forename: Luca
authors.initials: L
authors.lastname: Sbaiz
authors.forename: Maddalena
authors.initials: M
authors.lastname: Smid
authors.forename: Federica
authors.initials: F
authors.lastname: Pasi
authors.forename: Augusto
authors.initials: A
authors.lastname: Ferrari
authors.forename: Maurizio
authors.initials: M
authors.lastname: Ferrari
authors.forename: Laura
authors.initials: L
authors.lastname: Cremonesi
mesh_terms: D000328:Adult; D000483:Alleles; D015193:Chorionic Villi Sampling; D046209:Electrophoresis, Microchip; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005331:Fetomaternal Transfusion; D006801:Humans; D008297:Male; D020135:Peptide Nucleic Acids / Q000494:pharmacology*; D016133:Polymerase Chain Reaction / Q000295:instrumentation / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D017422:Sequence Analysis, DNA; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics
chemical_list: D020135:Peptide Nucleic Acids