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Your search keyword '"Borgatti, Monica"' showing total 8 results
Start Over Author "Borgatti, Monica" Search Limiters Full Text Journal international journal of molecular sciences
8 results on '"Borgatti, Monica"'

2. The rs368698783 (G>A) Polymorphism Affecting LYAR Binding to the Aγ-Globin Gene Is Associated with High Fetal Hemoglobin (HbF) in β-Thalassemia Erythroid Precursor Cells Treated with HbF Inducers

Author

Zuccato, Cristina, primary, Cosenza, Lucia Carmela, additional, Zurlo, Matteo, additional, Breveglieri, Giulia, additional, Bianchi, Nicoletta, additional, Lampronti, Ilaria, additional, Gasparello, Jessica, additional, Scapoli, Chiara, additional, Borgatti, Monica, additional, Finotti, Alessia, additional, and Gambari, Roberto, additional

Published
2023
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3. New TMA (4,6,4′-Trimethyl angelicin) Analogues as Anti-Inflammatory Agents in the Treatment of Cystic Fibrosis Lung Disease

Author

Tupini, Chiara, primary, Chilin, Adriana, additional, Rossi, Alice, additional, De Fino, Ida, additional, Bragonzi, Alessandra, additional, D’Aversa, Elisabetta, additional, Cosenza, Lucia Carmela, additional, Vaccarin, Christian, additional, Sacchetti, Gianni, additional, Borgatti, Monica, additional, Tamanini, Anna, additional, Dechecchi, Maria Cristina, additional, Sanvito, Francesca, additional, Gambari, Roberto, additional, Cabrini, Giulio, additional, and Lampronti, Ilaria, additional

Published
2022
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8. Droplet Digital PCR for Non-Invasive Prenatal Detection of Fetal Single-Gene Point Mutations in Maternal Plasma.

Author

D'Aversa, Elisabetta, Breveglieri, Giulia, Boutou, Effrossyni, Balassopoulou, Angeliki, Voskaridou, Ersi, Pellegatti, Patrizia, Guerra, Giovanni, Scapoli, Chiara, Gambari, Roberto, and Borgatti, Monica

Subjects
CELL-free DNA, GENETIC mutation, GENE amplification, DNA sequencing
Abstract

Non-invasive prenatal testing (NIPT) is based on the detection and characterization of circulating cell-free fetal DNA (ccffDNA) in maternal plasma and aims to identify genetic abnormalities. At present, commercial NIPT kits can detect only aneuploidies, small deletions and insertions and some paternally inherited single-gene point mutations causing genetic diseases, but not maternally inherited ones. In this work, we have developed two NIPT assays, based on the innovative and sensitive droplet digital PCR (ddPCR) technology, to identify the two most common β thalassemia mutations in the Mediterranean area (β+IVSI-110 and β039), maternally and/or paternally inherited, by fetal genotyping. The assays were optimized in terms of amplification efficiency and hybridization specificity, using mixtures of two genomic DNAs with different genotypes and percentages to simulate fetal and maternal circulating cell-free DNA (ccfDNA) at various gestational weeks. The two ddPCR assays were then applied to determine the fetal genotype from 52 maternal plasma samples at different gestational ages. The diagnostic outcomes were confirmed for all the samples by DNA sequencing. In the case of mutations inherited from the mother or from both parents, a precise dosage of normal and mutated alleles was required to determine the fetal genotype. In particular, we identified two diagnostic ranges for allelic ratio values statistically distinct and not overlapping, allowing correct fetal genotype determinations for almost all the analyzed samples. In conclusion, we have developed a simple and sensitive diagnostic tool, based on ddPCR, for the NIPT of β+IVSI-110 and β039 mutations paternally and, for the first time, maternally inherited, a tool, which may be applied to other single point mutations causing monogenic diseases. [ABSTRACT FROM AUTHOR]

Published
2022
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